R147Q (p.Arg147Gln) variant of GABRA1 (P14867)
R147Q (p.Arg147Gln) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R147Q (p.Arg147Gln) variant details
- p.Arg147Gln
- rs1376907797
- ClinGen CA362179086
- cosmic curated COSV10437
- ClinVar RCV000995773
- Pathogenic/Likely pathogenic
- Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- AlphaMissense 0.83
- MetaLR 0.70
- MetaSVM 0.53
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available