S15G (p.Ser15Gly) variant of KCNQ2 (O43526)
S15G (p.Ser15Gly) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- gnomAD rs1453801738
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.28
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available