A72S (p.Ala72Ser) variant of KCNQ2 (O43526)
A72S (p.Ala72Ser) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- gnomAD rs1482105369
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.74
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available