R3H (p.Arg3His) variant of HMGCS2 (P54868)
R3H (p.Arg3His) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.50 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs72695184
- ClinGen CA1038003
- cosmic curated COSV10468
- ClinVar RCV000815725
- Uncertain significance
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.44
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available