G151A (p.Gly151Ala) variant of L1CAM (Neural cell adhesion molecule L1)
G151A (p.Gly151Ala) 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 0.86 / 1. The record also includes structural context.
G151A (p.Gly151Ala) variant details
- p.Gly151Ala
- rs1064796291
- ClinGen CA415136716
- ClinVar RCV000802209
- Ensembl rs1064796291
- Uncertain significance
- Spastic paraplegia
- 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 (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available