H62Q (p.His62Gln) variant of KCNMA1 (Q12791)
H62Q (p.His62Gln) 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. The record also includes population frequency data.
H62Q (p.His62Gln) variant details
- p.His62Gln
- rs974972197
- ClinGen CA210159544
- ClinVar RCV003072587
- TOPMed rs974972197
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.20
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)