G42R (p.Gly42Arg) variant of RYR1 (Ryanodine receptor 1)
G42R (p.Gly42Arg) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs759417601
- ClinGen CA405671937
- ClinVar RCV000622303
- ClinVar RCV001855301
- Uncertain significance
- Missense
- REVEL 0.88
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)