V146M (p.Val146Met) variant of L1CAM (Neural cell adhesion molecule L1)
V146M (p.Val146Met) 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 L1CAM-related disorder; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V146M (p.Val146Met) variant details
- p.Val146Met
- rs199796566
- ClinGen CA10554587
- ClinVar RCV002132104
- ClinVar RCV003418383
- Conflicting interpretations
- L1CAM-related disorder; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.69
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (L1CAM-related disorder; Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available