I117V (p.Ile117Val) variant of HMGCS2 (P54868)
I117V (p.Ile117Val) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I117V (p.Ile117Val) variant details
- p.Ile117Val
- TOPMed rs1453735975
- gnomAD rs1453735975
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- CADD 14.60
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available