G7D (p.Gly7Asp) variant of RYR2 (Ryanodine receptor 2)
G7D (p.Gly7Asp) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs1660036173
- ClinGen CA345654178
- ClinVar RCV004010038
- ClinVar RCV004588530
- Uncertain significance
- not provided; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.60
- MetaLR 0.80
- MetaSVM 0.63
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Catecholaminergic polymorphic ventricular tachycar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)