G60S (p.Gly60Ser) variant of KCNQ2 (O43526)
G60S (p.Gly60Ser) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- Ensembl rs920009161
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.29
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available