S52N (p.Ser52Asn) variant of KCNQ2 (O43526)
S52N (p.Ser52Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available