C121F (p.Cys121Phe) variant of KCNMA1 (Q12791)
C121F (p.Cys121Phe) 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 0.43 / 1. The record also includes population frequency data.
C121F (p.Cys121Phe) variant details
- p.Cys121Phe
- rs2154572100
- ClinGen CA2573146002
- ClinVar RCV001921451
- Ensembl rs2154572100
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- CADD 24.10
- PolyPhen-2 0.51
- SIFT 0.70
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)