T27A (p.Thr27Ala) variant of RYR2 (Ryanodine receptor 2)
T27A (p.Thr27Ala) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- gnomAD rs1409511801
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.68
- MetaLR 0.88
- MetaSVM 0.92
- CADD 23.40
- PolyPhen-2 0.61
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available