P78S (p.Pro78Ser) variant of L1CAM (Neural cell adhesion molecule L1)
P78S (p.Pro78Ser) 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 Spastic paraplegia; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- rs144542429
- ClinGen CA10554627
- ClinVar RCV000604142
- ClinVar RCV001457196
- Conflicting interpretations
- Spastic paraplegia; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)