L14M (p.Leu14Met) variant of HSD17B3 (P37058)
L14M (p.Leu14Met) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- rs1407024099
- ClinGen CA374126697
- ClinVar RCV004404480
- gnomAD rs1407024099
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.28
- MetaLR 0.46
- MetaSVM -0.36
- CADD 12.90
- PolyPhen-2 0.29
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)