T15M (p.Thr15Met) variant of RYR1 (Ryanodine receptor 1)
T15M (p.Thr15Met) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RYR1-related disorder. The record also includes variant effect predictions and population frequency data.
T15M (p.Thr15Met) variant details
- p.Thr15Met
- ExAC rs762955465
- gnomAD rs762955465
- Uncertain significance
- RYR1-related disorder
- Missense
- REVEL 0.80
- MetaLR 0.95
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (RYR1-related disorder)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)