T16A (p.Thr16Ala) variant of RYR2 (Ryanodine receptor 2)
T16A (p.Thr16Ala) 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 0.77 / 1. The record also includes published literature and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs1660040720
- ClinGen CA345654228
- ClinVar RCV001178497
- Ensembl rs1660040720
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.83
- MetaLR 0.88
- MetaSVM 0.84
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.42
- 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)