A59V (p.Ala59Val) variant of L1CAM (Neural cell adhesion molecule L1)
A59V (p.Ala59Val) 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 0.46 / 1. The record also includes structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- rs2148500384
- ClinGen CA415139930
- ClinVar RCV001372486
- Ensembl rs2148500384
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.66
- MetaLR 0.10
- MetaSVM -1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available