A81T (p.Ala81Thr) variant of HMGCS2 (P54868)
A81T (p.Ala81Thr) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- rs151187711
- ClinGen CA1037929
- ClinVar RCV000490124
- ClinVar RCV001065755
- Uncertain significance
- Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; 3-hydroxy-3-methylglutaryl-CoA synthase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)