G13S (p.Gly13Ser) variant of KCNMA1 (Q12791)
G13S (p.Gly13Ser) 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 0.22 / 1. The record also includes population frequency data.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- rs1568036609
- ClinGen CA377412896
- cosmic curated COSV54228
- ClinVar RCV001107254
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)