S43F (p.Ser43Phe) variant of KCNMA1 (Q12791)
S43F (p.Ser43Phe) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- Ensembl rs866492357
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- UniProt: Uncertain significance
- Population evidence available