A38S (p.Ala38Ser) variant of KCNMA1 (Q12791)
A38S (p.Ala38Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs767099267
- ClinGen CA377412737
- ClinVar RCV003329947
- ClinVar RCV003777380
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.3e-05)