G7S (p.Gly7Ser) variant of RYR2 (Ryanodine receptor 2)
G7S (p.Gly7Ser) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs779910353
- ClinGen CA008658
- ClinVar RCV000182770
- ClinVar RCV001184236
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.53
- MetaLR 0.80
- MetaSVM 0.58
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)