D53G (p.Asp53Gly) variant of HMGCS2 (P54868)
D53G (p.Asp53Gly) 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 0.75 / 1. The record also includes population frequency data and structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- rs2464283650
- ClinGen CA341867109
- ClinVar RCV002633795
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.86
- CADD 26.90
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available