W91G (p.Trp91Gly) variant of KCNQ2 (O43526)
W91G (p.Trp91Gly) 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 0.62 / 1. The record also includes population frequency data and structural context.
W91G (p.Trp91Gly) variant details
- p.Trp91Gly
- rs1433056811
- ClinGen CA409635028
- ClinVar RCV006471995
- TOPMed rs1433056811
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available