S46C (p.Ser46Cys) variant of KCNMA1 (Q12791)
S46C (p.Ser46Cys) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- gnomAD rs1342941141
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3.5e-05)