A32V (p.Ala32Val) variant of HMGCS2 (P54868)
A32V (p.Ala32Val) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs199651321
- ClinGen CA1037982
- ClinVar RCV000348168
- ClinVar RCV002519379
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency; Inborn genet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)