G7R (p.Gly7Arg) variant of RYR3 (Ryanodine receptor 3)
G7R (p.Gly7Arg) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs763701721
- NCI-TCGA Cosmic COSV1012
- NCI-TCGA Cosmic COSV6680
- cosmic curated COSV66803
- Uncertain significance
- not specified
- Missense
- MetaLR 0.91
- MetaSVM 0.34
- CADD 31.00
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)