P57S (p.Pro57Ser) variant of KCNQ2 (O43526)
P57S (p.Pro57Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- rs1276943039
- ClinGen CA409635334
- ClinVar RCV004699341
- ClinVar RCV006466730
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.48
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available