G17S (p.Gly17Ser) variant of KCNMA1 (Q12791)
G17S (p.Gly17Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- Ensembl rs886047269
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)