T91I (p.Thr91Ile) variant of HMGCS2 (P54868)
T91I (p.Thr91Ile) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T91I (p.Thr91Ile) variant details
- p.Thr91Ile
- 1000Genomes rs587697520
- TOPMed rs587697520
- gnomAD rs587697520
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.50
- CADD 21.90
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available