L37S (p.Leu37Ser) variant of RYR2 (Ryanodine receptor 2)
L37S (p.Leu37Ser) 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 0.92 / 1. The record also includes published literature and structural context.
L37S (p.Leu37Ser) variant details
- p.Leu37Ser
- rs1689578487
- ClinGen CA345654395
- ClinVar RCV001188756
- Ensembl rs1689578487
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)