P90L (p.Pro90Leu) variant of L1CAM (Neural cell adhesion molecule L1)
P90L (p.Pro90Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- rs782384760
- ClinGen CA10554624
- ClinVar RCV003750326
- ExAC rs782384760
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.23
- CADD 20.60
- PolyPhen-2 0.72
- SIFT 0.05
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available