A89V (p.Ala89Val) variant of KCNMA1 (Q12791)
A89V (p.Ala89Val) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- ExAC rs780328891
- gnomAD rs780328891
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.09
- CADD 24.70
- PolyPhen-2 0.33
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)