T108I (p.Thr108Ile) variant of HSD17B3 (P37058)
T108I (p.Thr108Ile) in HSD17B3 (P37058) 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 0.76 / 1. The record also includes population frequency data and structural context.
T108I (p.Thr108Ile) variant details
- p.Thr108Ile
- gnomAD rs897533007
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.71
- MetaLR 0.88
- MetaSVM 0.95
- CADD 25.50
- PolyPhen-2 0.83
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available