G151E (p.Gly151Glu) variant of L1CAM (Neural cell adhesion molecule L1)
G151E (p.Gly151Glu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G151E (p.Gly151Glu) variant details
- p.Gly151Glu
- rs1064796291
- ClinGen CA16621238
- ClinVar RCV000481510
- Ensembl rs1064796291
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available