I103T (p.Ile103Thr) variant of HSD17B3 (P37058)
I103T (p.Ile103Thr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
I103T (p.Ile103Thr) variant details
- p.Ile103Thr
- ExAC rs760740918
- TOPMed rs760740918
- gnomAD rs760740918
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.76
- MetaLR 0.88
- MetaSVM 0.95
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available