V86M (p.Val86Met) variant of L1CAM (Neural cell adhesion molecule L1)
V86M (p.Val86Met) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Spastic paraplegia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- rs149309725
- ClinGen CA245105
- ClinVar RCV000178098
- ClinVar RCV002453634
- Conflicting interpretations
- not provided; Spastic paraplegia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 16.60
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Spastic paraplegia; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)