M1T (p.Met1Thr) variant of RYR2 (Ryanodine receptor 2)
M1T (p.Met1Thr) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1453040850
- ClinGen CA345654137
- ClinVar RCV002300913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- MetaLR 0.77
- MetaSVM 0.41
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available