H30Q (p.His30Gln) variant of KCNMA1 (Q12791)
H30Q (p.His30Gln) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs75040504
- 1000Genomes rs75040504
- ESP rs75040504
- ExAC rs75040504
- Likely benign
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Likely benign (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)