S15I (p.Ser15Ile) variant of KCNQ2 (O43526)
S15I (p.Ser15Ile) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S15I (p.Ser15Ile) variant details
- p.Ser15Ile
- Ensembl rs867459803
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available