A31V (p.Ala31Val) variant of KCNMA1 (Q12791)
A31V (p.Ala31Val) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs201551432
- ClinGen CA210159555
- ClinVar RCV001343465
- TOPMed rs201551432
- Likely benign
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Likely benign (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)