I22M (p.Ile22Met) variant of L1CAM (Neural cell adhesion molecule L1)
I22M (p.Ile22Met) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
I22M (p.Ile22Met) variant details
- p.Ile22Met
- rs1557094388
- ClinGen CA415142559
- ClinVar RCV002006734
- gnomAD rs1557094388
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.70
- PolyPhen-2 0.07
- SIFT 0.09
- EVE 0.37
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available