A31S (p.Ala31Ser) variant of KCNQ2 (O43526)
A31S (p.Ala31Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- rs2516746096
- ClinGen CA409635789
- ClinVar RCV003234862
- Uncertain significance
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.13
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)