Q12H (p.Gln12His) variant of RYR2 (Ryanodine receptor 2)
Q12H (p.Gln12His) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- rs746811389
- ClinGen CA086434
- ClinVar RCV000773022
- ClinVar RCV002343256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.76
- MetaLR 0.91
- MetaSVM 0.85
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)