G17R (p.Gly17Arg) variant of KCNMA1 (Q12791)
G17R (p.Gly17Arg) 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 0.29 / 1.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs886047269
- ClinGen CA10632329
- ClinVar RCV000357305
- Ensembl rs886047269
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.44
- MetaLR 0.05
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance