G18D (p.Gly18Asp) variant of KCNMA1 (Q12791)
G18D (p.Gly18Asp) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD rs1275894827
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available