A54V (p.Ala54Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A54V (p.Ala54Val) 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 not provided; Perrault syndrome; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs141517981
- ClinGen CA3381702
- ClinVar RCV002301020
- ClinVar RCV003097882
- Uncertain significance
- not provided; Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM 0.07
- CADD 24.30
- ClinVar: Uncertain significance (not provided; Perrault syndrome; Bifunctional peroxisomal enzyme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)