H30Y (p.His30Tyr) variant of KCNMA1 (Q12791)
H30Y (p.His30Tyr) 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 0.46 / 1. The record also includes population frequency data.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs1164839444
- ClinGen CA377412787
- ClinVar RCV002781507
- TOPMed rs1164839444
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.27
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available