A38S (p.Ala38Ser) variant of RYR2 (Ryanodine receptor 2)
A38S (p.Ala38Ser) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs747977592
- ClinGen CA084893
- ClinVar RCV001187023
- ClinVar RCV005394794
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.76
- MetaLR 0.87
- MetaSVM 0.99
- CADD 24.10
- PolyPhen-2 0.75
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)