A125S (p.Ala125Ser) variant of KCNQ2 (O43526)
A125S (p.Ala125Ser) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A125S (p.Ala125Ser) variant details
- p.Ala125Ser
- TOPMed rs968803576
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.55
- CADD 21.90
- PolyPhen-2 0.64
- SIFT 0.40
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available