A171V (p.Ala171Val) variant of HMGCS2 (P54868)
A171V (p.Ala171Val) 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 0.77 / 1. The record also includes population frequency data and structural context.
A171V (p.Ala171Val) variant details
- p.Ala171Val
- rs1653132966
- ClinGen CA341864330
- ClinVar RCV001089999
- TOPMed rs1653132966
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.87
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available