H515Q (p.His515Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H515Q (p.His515Gln) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Perrault syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
H515Q (p.His515Gln) variant details
- p.His515Gln
- rs751742258
- ClinGen CA3382305
- ClinVar RCV003988793
- ExAC rs751742258
- Pathogenic
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.03
- CADD 23.10
- ClinVar: Pathogenic (Perrault syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)