S45Y (p.Ser45Tyr) variant of KCNMA1 (Q12791)
S45Y (p.Ser45Tyr) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
S45Y (p.Ser45Tyr) variant details
- p.Ser45Tyr
- gnomAD rs1429334349
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the HGDP:YI population (allele frequency 0.05)