T302I (p.Thr302Ile) variant of HMGCS2 (P54868)
T302I (p.Thr302Ile) 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 0.70 / 1. The record also includes population frequency data and structural context.
T302I (p.Thr302Ile) variant details
- p.Thr302Ile
- rs1652875135
- ClinGen CA341860680
- ClinVar RCV001090000
- Ensembl rs1652875135
- Likely pathogenic
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.64
- CADD 26.80
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Likely pathogenic (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available