A26T (p.Ala26Thr) variant of RYR2 (Ryanodine receptor 2)
A26T (p.Ala26Thr) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs368974917
- ClinGen CA087454
- cosmic curated COSV10076
- ClinVar RCV001187691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.72
- MetaLR 0.94
- MetaSVM 1.02
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)