G301V (p.Gly301Val) variant of KCNQ2 (O43526)
G301V (p.Gly301Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G301V (p.Gly301Val) variant details
- p.Gly301Val
- rs1131691936
- ClinGen CA409652524
- ClinVar RCV000494141
- ClinVar RCV006463103
- Likely pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available