V54M (p.Val54Met) variant of HMGCS2 (P54868)
V54M (p.Val54Met) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- rs28937320
- ClinGen CA120262
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65567
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.88
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. (PMID 12647205)
- Cited in: New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. (PMID 23751782)