G14S (p.Gly14Ser) variant of KCNMA1 (Q12791)
G14S (p.Gly14Ser) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- TOPMed rs997594261
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)