Y167C (p.Tyr167Cys) variant of HMGCS2 (P54868)
Y167C (p.Tyr167Cys) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
Y167C (p.Tyr167Cys) variant details
- p.Tyr167Cys
- rs137852640
- ClinGen CA120266
- ClinVar RCV000009844
- UniProt VAR 032758
- Pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Pathogenic (in HMGCS2D)
- UniProt: Pathogenic (in HMGCS2D)
- Most common in the REMAINING population (allele frequency 1.7e-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)