A2S (p.Ala2Ser) variant of RYR2 (Ryanodine receptor 2)
A2S (p.Ala2Ser) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1660032942
- ClinGen CA345654143
- ClinVar RCV001178425
- Ensembl rs1660032942
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- MetaLR 0.80
- MetaSVM 0.42
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)