G2D (p.Gly2Asp) variant of RYR1 (Ryanodine receptor 1)
G2D (p.Gly2Asp) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 1. The record also includes variant effect predictions and population frequency data.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- Ensembl rs886054378
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1
- Missense
- REVEL 0.47
- AlphaMissense 0.15
- MetaLR 0.76
- MetaSVM 0.24
- CADD 21.00
- PolyPhen-2 0.56
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)