I88F (p.Ile88Phe) variant of HSD17B3 (P37058)
I88F (p.Ile88Phe) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I88F (p.Ile88Phe) variant details
- p.Ile88Phe
- ExAC rs750133798
- gnomAD rs750133798
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.32
- MetaLR 0.64
- MetaSVM -0.13
- CADD 12.60
- PolyPhen-2 0.45
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available