V103D (p.Val103Asp) variant of KCNQ2 (O43526)
V103D (p.Val103Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
V103D (p.Val103Asp) variant details
- p.Val103Asp
- rs2145789820
- ClinGen CA409656556
- ClinVar RCV006558052
- Ensembl rs2145789820
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available