D240A (p.Asp240Ala) variant of HMGCS2 (P54868)
D240A (p.Asp240Ala) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
D240A (p.Asp240Ala) variant details
- p.Asp240Ala
- rs762211049
- ClinGen CA341862509
- ClinVar RCV001794526
- ExAC rs762211049
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- MutPred 0.93
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available