K9R (p.Lys9Arg) variant of HMGCS2 (P54868)
K9R (p.Lys9Arg) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- rs144004292
- ClinGen CA1037999
- ClinVar RCV000289757
- ClinVar RCV005572295
- Conflicting interpretations
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.13
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (3-hydroxy-3-methylglutaryl-CoA synthase deficiency; Inborn genet)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00025)
- 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)