V132L (p.Val132Leu) variant of KCNQ2 (O43526)
V132L (p.Val132Leu) 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 0.76 / 1. The record also includes structural context.
V132L (p.Val132Leu) variant details
- p.Val132Leu
- rs1600789325
- ClinGen CA409655623
- ClinVar RCV006464390
- Ensembl rs1600789325
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.62
- MetaLR 0.90
- MetaSVM 0.85
- PolyPhen-2 0.74
- SIFT 0.15
- EVE 0.42
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available