A38T (p.Ala38Thr) variant of RYR2 (Ryanodine receptor 2)
A38T (p.Ala38Thr) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs747977592
- ClinGen CA345654398
- ClinVar RCV001177903
- ClinVar RCV002325509
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.86
- MetaLR 0.30
- MetaSVM -0.58
- CADD 27.10
- PolyPhen-2 0.87
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)