F45V (p.Phe45Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)

Name: HSD17B4 F45V (p.Phe45Val) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

F45V (p.Phe45Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.

F45V (p.Phe45Val) variant details

p.Phe45Val
gnomAD 5-119471637-T-G
Missense
Variant Prioritization Score for Impact Estimate 0.149
REVEL 0.16
MetaLR 0.19
MetaSVM -0.92
CADD 1.64
SIFT 0.32
Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
Structural context available
Literature evidence available