Y187D (p.Tyr187Asp) variant of GABRA1 (P14867)
Y187D (p.Tyr187Asp) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
Y187D (p.Tyr187Asp) variant details
- p.Tyr187Asp
- rs2113389254
- ClinGen CA362179372
- ClinVar RCV002250002
- Ensembl rs2113389254
- Pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available