G13S (p.Gly13Ser) variant of KCNQ2 (O43526)
G13S (p.Gly13Ser) in KCNQ2 (O43526) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.38
- CADD 21.40
- PolyPhen-2 0.10
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available