S41A (p.Ser41Ala) variant of KCNMA1 (Q12791)
S41A (p.Ser41Ala) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
S41A (p.Ser41Ala) variant details
- p.Ser41Ala
- TOPMed rs2093888755
- gnomAD rs2093888755
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.32
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)