D122N (p.Asp122Asn) variant of HMGCS2 (P54868)
D122N (p.Asp122Asn) 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 0.46 / 1. The record also includes population frequency data and structural context.
D122N (p.Asp122Asn) variant details
- p.Asp122Asn
- rs368014391
- ClinGen CA312646
- cosmic curated COSV65569
- ClinVar RCV000185973
- Uncertain significance
- not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.31
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (not provided; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available