S15R (p.Ser15Arg) variant of KCNQ2 (O43526)
S15R (p.Ser15Arg) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- rs1405868145
- ClinGen CA409636112
- ClinVar RCV006562140
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available