G134S (p.Gly134Ser) variant of L1CAM (Neural cell adhesion molecule L1)
G134S (p.Gly134Ser) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
G134S (p.Gly134Ser) variant details
- p.Gly134Ser
- rs1557093353
- ClinGen CA415137340
- ClinVar RCV000519281
- Ensembl rs1557093353
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.14
- MetaLR 0.17
- MetaSVM -0.81
- PolyPhen-2 0.23
- SIFT 0.61
- MutPred 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available