R501Q (p.Arg501Gln) variant of HMGCS2 (P54868)
R501Q (p.Arg501Gln) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R501Q (p.Arg501Gln) variant details
- p.Arg501Gln
- rs372079931
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- TOPMed rs372079931
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.72
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available