G122R (p.Gly122Arg) variant of KCNMA1 (Q12791)
G122R (p.Gly122Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- rs1167824169
- ClinGen CA377412196
- cosmic curated COSV10514
- ClinVar RCV002043934
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.74
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)