G4A (p.Gly4Ala) variant of RYR2 (Ryanodine receptor 2)
G4A (p.Gly4Ala) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs866878858
- ClinGen CA345654160
- ClinVar RCV002528357
- ClinVar RCV003999089
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.17
- MetaLR 0.73
- MetaSVM 0.06
- CADD 18.80
- PolyPhen-2 0.04
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)