R2K (p.Arg2Lys) variant of GABRA1 (P14867)
R2K (p.Arg2Lys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.16 / 1. The record also includes population frequency data and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- rs2113293570
- ClinGen CA362180968
- cosmic curated COSV10721
- ClinVar RCV002014007
- Likely pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.13
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available