P333R (p.Pro333Arg) variant of L1CAM (Neural cell adhesion molecule L1)
P333R (p.Pro333Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spastic paraplegia; not provided; L1 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
P333R (p.Pro333Arg) variant details
- p.Pro333Arg
- rs1064793162
- ClinGen CA16621236
- ClinVar RCV000484845
- ClinVar RCV002525764
- Pathogenic/Likely pathogenic
- Spastic paraplegia; not provided; L1 syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; not provided; L1 syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available