H30R (p.His30Arg) variant of KCNMA1 (Q12791)
H30R (p.His30Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
H30R (p.His30Arg) variant details
- p.His30Arg
- rs200474297
- ClinGen CA5568813
- ClinVar RCV000300299
- ClinVar RCV000317390
- Conflicting interpretations
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)