D240V (p.Asp240Val) variant of HMGCS2 (P54868)
D240V (p.Asp240Val) 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 0.83 / 1. The record also includes population frequency data and structural context.
D240V (p.Asp240Val) variant details
- p.Asp240Val
- ExAC rs762211049
- gnomAD rs762211049
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available