A31S (p.Ala31Ser) variant of KCNMA1 (Q12791)
A31S (p.Ala31Ser) 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 0.44 / 1. The record also includes population frequency data.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- rs1343575385
- ClinGen CA377412779
- ClinVar RCV001216659
- TOPMed rs1343575385
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-06)