H29R (p.His29Arg) variant of RYR2 (Ryanodine receptor 2)
H29R (p.His29Arg) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs780931894
- ClinGen CA087703
- ClinVar RCV003532815
- ExAC rs780931894
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.58
- MetaLR 0.70
- MetaSVM 0.29
- CADD 19.50
- PolyPhen-2 0.18
- SIFT 0.79
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)