T25N (p.Thr25Asn) variant of RYR2 (Ryanodine receptor 2)
T25N (p.Thr25Asn) 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 0.50 / 1. The record also includes population frequency data and structural context.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- gnomAD rs1689573012
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.70
- CADD 16.60
- PolyPhen-2 0.10
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available