A54G (p.Ala54Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A54G (p.Ala54Gly) 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 Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- rs141517981
- ClinGen CA3381704
- ClinVar RCV001926196
- ESP rs141517981
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.60
- MetaSVM 0.23
- CADD 26.20
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)