V37F (p.Val37Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V37F (p.Val37Phe) 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; Inborn genetic diseases. 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.
V37F (p.Val37Phe) variant details
- p.Val37Phe
- rs747214551
- ClinGen CA360860010
- ClinVar RCV004404481
- ClinVar RCV004775553
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.71
- MetaSVM 0.42
- CADD 23.30
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)