L13M (p.Leu13Met) variant of NSD1 (Q96L73)
L13M (p.Leu13Met) in NSD1 (Q96L73) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- rs1348059308
- ClinGen CA362290126
- ClinVar RCV003208264
- TOPMed rs1348059308
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.37
- CADD 22.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)