L17V (p.Leu17Val) variant of DCC (Netrin receptor DCC)
L17V (p.Leu17Val) in DCC (Netrin receptor DCC) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs765345419
- ClinGen CA402512179
- ClinVar RCV002896794
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.06
- CADD 20.00
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-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)