G15D (p.Gly15Asp) variant of KCNMA1 (Q12791)
G15D (p.Gly15Asp) 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 0.41 / 1.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs2093899892
- ClinGen CA377412883
- ClinVar RCV003060733
- Ensembl rs2093899892
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.31
- MetaLR 0.33
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance