I88T (p.Ile88Thr) variant of HSD17B3 (P37058)
I88T (p.Ile88Thr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- gnomAD rs1444508567
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- MetaLR 0.43
- MetaSVM -0.60
- CADD 9.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available