P4Q (p.Pro4Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)

Name: HSD17B4 P4Q (p.Pro4Gln) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

P4Q (p.Pro4Gln) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.

P4Q (p.Pro4Gln) variant details

p.Pro4Gln
gnomAD 5-119452773-C-A
Missense
Variant Prioritization Score for Impact Estimate 0.159
REVEL 0.13
MetaLR 0.20
MetaSVM -0.90
CADD 11.70
SIFT 0.05
Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
Structural context available
Literature evidence available