L139F (p.Leu139Phe) variant of HSD17B3 (P37058)
L139F (p.Leu139Phe) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L139F (p.Leu139Phe) variant details
- p.Leu139Phe
- ExAC rs780685404
- gnomAD rs780685404
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.82
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available