G5D (p.Gly5Asp) variant of KCNMA1 (Q12791)
G5D (p.Gly5Asp) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- ExAC rs773490198
- gnomAD rs773490198
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)