A92V (p.Ala92Val) variant of KCNMA1 (Q12791)
A92V (p.Ala92Val) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- ExAC rs765858133
- gnomAD rs765858133
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.23
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)