L153F (p.Leu153Phe) variant of HSD17B3 (P37058)
L153F (p.Leu153Phe) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L153F (p.Leu153Phe) variant details
- p.Leu153Phe
- ExAC rs772442387
- gnomAD rs772442387
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.57
- MetaLR 0.68
- MetaSVM 0.04
- CADD 21.50
- PolyPhen-2 0.78
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available