S35N (p.Ser35Asn) variant of KCNMA1 (Q12791)
S35N (p.Ser35Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- rs988230623
- ClinGen CA377412755
- ClinVar RCV003044382
- TOPMed rs988230623
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)