G9D (p.Gly9Asp) variant of KCNMA1 (Q12791)
G9D (p.Gly9Asp) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- gnomAD rs1326570648
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)