G7D (p.Gly7Asp) variant of KCNMA1 (Q12791)
G7D (p.Gly7Asp) 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.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- gnomAD rs1286114059
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)