G42S (p.Gly42Ser) variant of RYR1 (Ryanodine receptor 1)
G42S (p.Gly42Ser) 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 not provided; RYR1-related disorder. The record also includes variant effect predictions and population frequency data.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs759417601
- ClinGen CA059039
- NCI-TCGA Cosmic COSV6209
- cosmic curated COSV62094
- Uncertain significance
- not provided; RYR1-related disorder
- Missense
- REVEL 0.81
- MetaLR 0.95
- MetaSVM 1.07
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; RYR1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)