G2284D (p.Gly2284Asp) variant of RYR2 (Ryanodine receptor 2)
G2284D (p.Gly2284Asp) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G2284D (p.Gly2284Asp) variant details
- p.Gly2284Asp
- Ensembl rs2148724035
- Likely pathogenic
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- MetaLR 0.90
- MetaSVM 1.00
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ventricular arrhythmias due to cardiac ryanodine receptor calciu)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available