Q129E (p.Gln129Glu) variant of KCNMA1 (Q12791)
Q129E (p.Gln129Glu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
Q129E (p.Gln129Glu) variant details
- p.Gln129Glu
- rs377430922
- ClinGen CA210133345
- ClinVar RCV001296424
- ClinVar RCV005408818
- Uncertain significance
- not specified; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.14
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.69
- ClinVar: Uncertain significance (not specified; Generalized epilepsy-paroxysmal dyskinesia syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)