H123D (p.His123Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H123D (p.His123Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Perrault syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
H123D (p.His123Asp) variant details
- p.His123Asp
- rs786205574
- ClinGen CA236235
- ClinVar RCV000171384
- ClinVar RCV003987412
- Likely pathogenic
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Perrault syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)