F7L (p.Phe7Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F7L (p.Phe7Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Perrault syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- rs143278360
- cosmic curated COSV56336
- ClinGen CA360861650
- ClinVar RCV003990584
- Uncertain significance
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (Perrault syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)