G123S (p.Gly123Ser) variant of KCNMA1 (Q12791)
G123S (p.Gly123Ser) 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 0.42 / 1. The record also includes population frequency data.
G123S (p.Gly123Ser) variant details
- p.Gly123Ser
- rs1246413912
- ClinGen CA377412191
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54275
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.75
- 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 3e-05)