Y792C (p.Tyr792Cys) variant of HMGCR (P04035)
Y792C (p.Tyr792Cys) in HMGCR (P04035) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Muscular dystrophy, limb-girdle, autosomal recessive 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y792C (p.Tyr792Cys) variant details
- p.Tyr792Cys
- rs2478802501
- ClinGen CA360129236
- ClinVar RCV003236607
- UniProt VAR 088592
- Pathogenic
- Muscular dystrophy, limb-girdle, autosomal recessive 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.35
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Muscular dystrophy, limb-girdle, autosomal recessive 28)
- EBI: Pathogenic (in LGMDR28)
- UniProt: Pathogenic (in LGMDR28)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. (PMID 37167966)
- Cited in: Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. (PMID 36745799)