C10R (p.Cys10Arg) variant of GABRA1 (P14867)
C10R (p.Cys10Arg) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- rs1217531305
- ClinGen CA362181073
- ClinVar RCV001522514
- TOPMed rs1217531305
- Benign
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Benign (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available