T24I (p.Thr24Ile) variant of HMGCS2 (P54868)
T24I (p.Thr24Ile) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- rs369221781
- ClinGen CA1037990
- ClinVar RCV000706394
- ESP rs369221781
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.22
- CADD 8.41
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available