I29V (p.Ile29Val) variant of KCNMA1 (Q12791)
I29V (p.Ile29Val) 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 0.45 / 1. The record also includes population frequency data.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- rs369845234
- ClinGen CA210159558
- ClinVar RCV000701689
- ClinVar RCV000730842
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.3e-05)