H33Y (p.His33Tyr) variant of KCNMA1 (Q12791)
H33Y (p.His33Tyr) 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 0.49 / 1. The record also includes population frequency data.
H33Y (p.His33Tyr) variant details
- p.His33Tyr
- rs2093891400
- ClinGen CA377412769
- ClinVar RCV001905994
- gnomAD rs2093891400
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.34
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available