V47F (p.Val47Phe) variant of L1CAM (Neural cell adhesion molecule L1)
V47F (p.Val47Phe) 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 Inborn genetic diseases; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V47F (p.Val47Phe) variant details
- p.Val47Phe
- rs147251476
- ClinGen CA10554654
- ClinVar RCV002389219
- ClinVar RCV003774305
- Conflicting interpretations
- Inborn genetic diseases; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-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)