Y252C (p.Tyr252Cys) variant of GABRA1 (P14867)
Y252C (p.Tyr252Cys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
Y252C (p.Tyr252Cys) variant details
- p.Tyr252Cys
- rs2113446442
- ClinGen CA362179831
- ClinVar RCV002029482
- Ensembl rs2113446442
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.55
- PolyPhen-2 0.19
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available