D69N (p.Asp69Asn) variant of HMGCS2 (P54868)
D69N (p.Asp69Asn) 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 0.53 / 1. The record also includes population frequency data and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- rs1217700912
- ClinGen CA341866834
- ClinVar RCV003016956
- gnomAD rs1217700912
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.43
- SIFT 0.15
- 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 1.2e-05)
- Structural context available