C57Y (p.Cys57Tyr) variant of L1CAM (Neural cell adhesion molecule L1)
C57Y (p.Cys57Tyr) 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 0.94 / 1. The record also includes structural context.
C57Y (p.Cys57Tyr) variant details
- p.Cys57Tyr
- rs1057517755
- ClinGen CA16043181
- ClinVar RCV000413431
- Ensembl rs1057517755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available