I125T (p.Ile125Thr) variant of HSD17B3 (P37058)
I125T (p.Ile125Thr) in HSD17B3 (P37058) is a missense change. 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.
I125T (p.Ile125Thr) variant details
- p.Ile125Thr
- TOPMed rs1158599463
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.81
- MetaLR 0.86
- MetaSVM 0.93
- CADD 24.70
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available