R92G (p.Arg92Gly) variant of HMGCS2 (P54868)
R92G (p.Arg92Gly) 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; not provided; 3-hydroxy-3-methylglutaryl-CoA synthase d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R92G (p.Arg92Gly) variant details
- p.Arg92Gly
- rs771955824
- ClinGen CA1037919
- ClinVar RCV002265482
- ClinVar RCV003095999
- Uncertain significance
- Inborn genetic diseases; not provided; 3-hydroxy-3-methylglutaryl-CoA synthase d
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.20
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; 3-hydroxy-3-methylglutary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00045)
- 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)