F29S (p.Phe29Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F29S (p.Phe29Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F29S (p.Phe29Ser) variant details
- p.Phe29Ser
- ESP rs373805649
- ExAC rs373805649
- TOPMed rs373805649
- gnomAD rs373805649
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 13.10
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available