Q2083P (p.Gln2083Pro) variant of RYR3 (Ryanodine receptor 3)
Q2083P (p.Gln2083Pro) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hydrops fetalis. The record also includes variant effect predictions and population frequency data.
Q2083P (p.Gln2083Pro) variant details
- p.Gln2083Pro
- rs2152767575
- ClinGen CA391583025
- ClinVar RCV001842232
- Ensembl rs2152767575
- Pathogenic
- Hydrops fetalis
- Missense
- MetaLR 0.72
- MetaSVM 0.60
- CADD 32.00
- PolyPhen-2 0.24
- SIFT 0.04
- ClinVar: Pathogenic (Hydrops fetalis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)