S60W (p.Ser60Trp) variant of KCNMA1 (Q12791)
S60W (p.Ser60Trp) 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 0.36 / 1. The record also includes population frequency data.
S60W (p.Ser60Trp) variant details
- p.Ser60Trp
- rs768769748
- ClinGen CA377412612
- ClinVar RCV000799033
- ExAC rs768769748
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- CADD 27.00
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)