G4S (p.Gly4Ser) variant of KCNMA1 (Q12791)
G4S (p.Gly4Ser) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- gnomAD rs1299022120
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 26.60
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)