From: Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?
Gene | Transcript | Transcript variant | Protein variant | gnomAD v3.1 (MAF) | CADD Phred score | Mutation Taster | Poly-Phen |
---|---|---|---|---|---|---|---|
CACNA1H | NM_021098 | c.1441C > T | p.R481C | 8/143316 | 18.2 | PM | PrD |
GPER1 | NM_001039966 | c.505C > T | p.R169C | 2/143370 | 26.2 | N.A | N.A |
SPTBN5 | NM_016642 | c.8572C > T | p.H2858Y | Absent; present in dbSNP rs887835041 | 13.9 | PM | PrD |
NUBP2 | NM_012225 | c.296C > T | p.P99L | 2/143346 | 22.9 | DC | PoD |