K3R (p.Lys3Arg) variant of GABRA1 (P14867)
K3R (p.Lys3Arg) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- rs111452646
- ClinGen CA131082092
- ClinVar RCV001361955
- gnomAD rs111452646
- Benign
- Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.15
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized,)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available