V253A (p.Val253Ala) variant of HMGCS2 (P54868)
V253A (p.Val253Ala) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
V253A (p.Val253Ala) variant details
- p.Val253Ala
- TOPMed rs1249021511
- gnomAD rs1249021511
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.83
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available