L73F (p.Leu73Phe) variant of HSD17B3 (P37058)
L73F (p.Leu73Phe) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- rs370158010
- ESP rs370158010
- ExAC rs370158010
- TOPMed rs370158010
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.24
- MetaLR 0.59
- MetaSVM -0.27
- CADD 14.80
- PolyPhen-2 0.13
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available