A193D (p.Ala193Asp) variant of KCNQ2 (O43526)
A193D (p.Ala193Asp) 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 0.89 / 1. The record also includes structural context.
A193D (p.Ala193Asp) variant details
- p.Ala193Asp
- rs796052619
- ClinGen CA315357
- ClinVar RCV000187854
- ClinVar RCV003315314
- Pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available