V250L (p.Val250Leu) variant of KCNQ2 (O43526)
V250L (p.Val250Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
V250L (p.Val250Leu) variant details
- p.Val250Leu
- rs2081190344
- ClinGen CA409653918
- ClinVar RCV001092634
- ClinVar RCV006465345
- Pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available