R35M (p.Arg35Met) variant of HMGCS2 (P54868)
R35M (p.Arg35Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R35M (p.Arg35Met) variant details
- p.Arg35Met
- rs751101083
- ClinGen CA1037979
- ClinVar RCV000799471
- ExAC rs751101083
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.36
- CADD 21.60
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available