I29F (p.Ile29Phe) variant of KCNMA1 (Q12791)
I29F (p.Ile29Phe) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
I29F (p.Ile29Phe) variant details
- p.Ile29Phe
- rs369845234
- ClinGen CA5568814
- ClinVar RCV003622126
- 1000Genomes rs369845234
- Likely benign
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- CADD 24.60
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Likely benign (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0052)