P68H (p.Pro68His) variant of KCNQ2 (O43526)
P68H (p.Pro68His) 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 0.51 / 1. The record also includes population frequency data and structural context.
P68H (p.Pro68His) variant details
- p.Pro68His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available