W14C (p.Trp14Cys) variant of GABRA1 (P14867)
W14C (p.Trp14Cys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Developmental and epileptic encephalopathy, 19; Epilepsy, idiopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
W14C (p.Trp14Cys) variant details
- p.Trp14Cys
- rs2113293899
- ClinGen CA362181137
- ClinVar RCV003806272
- ClinVar RCV004784187
- Conflicting interpretations
- not provided; Developmental and epileptic encephalopathy, 19; Epilepsy, idiopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.44
- MetaLR 0.26
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.69
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 19; Ep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available