G16S (p.Gly16Ser) variant of KCNMA1 (Q12791)
G16S (p.Gly16Ser) 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 0.69 / 1. The record also includes population frequency data.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs1568035847
- ClinGen CA377412880
- ClinVar RCV002938214
- ClinVar RCV004738633
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)