A31G (p.Ala31Gly) variant of KCNMA1 (Q12791)
A31G (p.Ala31Gly) 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 0.53 / 1. The record also includes population frequency data.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs201551432
- ClinGen CA210159556
- ClinVar RCV000698278
- TOPMed rs201551432
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)