A31P (p.Ala31Pro) variant of KCNMA1 (Q12791)
A31P (p.Ala31Pro) 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 0.45 / 1. The record also includes population frequency data.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- rs1343575385
- ClinVar RCV004572998
- ClinVar RCV005100100
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.32
- CADD 25.00
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)