I88V (p.Ile88Val) variant of HSD17B3 (P37058)
I88V (p.Ile88Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- ExAC rs750133798
- gnomAD rs750133798
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.24
- MetaLR 0.24
- MetaSVM -0.61
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available