A125V (p.Ala125Val) variant of KCNQ2 (O43526)
A125V (p.Ala125Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- ESP rs150051355
- ExAC rs150051355
- gnomAD rs150051355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.77
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available