I11T (p.Ile11Thr) variant of RYR2 (Ryanodine receptor 2)
I11T (p.Ile11Thr) 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 0.57 / 1. The record also includes population frequency data and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- rs794728760
- ClinGen CA009182
- ClinVar RCV000182771
- ClinVar RCV000621404
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.55
- MetaLR 0.88
- MetaSVM 0.62
- CADD 25.20
- PolyPhen-2 0.48
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available