L59M (p.Leu59Met) variant of HMGCS2 (P54868)
L59M (p.Leu59Met) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L59M (p.Leu59Met) variant details
- p.Leu59Met
- rs181428774
- ClinGen CA1037943
- ClinVar RCV000756247
- ClinVar RCV001099374
- Conflicting interpretations
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.21
- CADD 8.64
- PolyPhen-2 0.12
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available