Q32P (p.Gln32Pro) variant of RYR2 (Ryanodine receptor 2)
Q32P (p.Gln32Pro) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q32P (p.Gln32Pro) variant details
- p.Gln32Pro
- rs909314611
- ClinGen CA39988656
- ClinVar RCV001189530
- ClinVar RCV002560940
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- MetaLR 0.83
- MetaSVM 0.71
- CADD 25.60
- PolyPhen-2 0.46
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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)