V37I (p.Val37Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V37I (p.Val37Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bifunctional peroxisomal enzyme deficiency; Perrault sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs747214551
- ClinGen CA3381664
- ClinVar RCV000614923
- ClinVar RCV000734981
- Conflicting interpretations
- Inborn genetic diseases; Bifunctional peroxisomal enzyme deficiency; Perrault sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.50
- MetaSVM -0.28
- CADD 23.30
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bifunctional peroxisomal enzyme deficie)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)