S35R (p.Ser35Arg) variant of KCNMA1 (Q12791)
S35R (p.Ser35Arg) 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 0.47 / 1. The record also includes population frequency data.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- ExAC rs755591362
- gnomAD rs755591362
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)