V8E (p.Val8Glu) variant of L1CAM (Neural cell adhesion molecule L1)
V8E (p.Val8Glu) 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 0.42 / 1. The record also includes structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- rs886044768
- ClinGen CA10603776
- ClinVar RCV000314558
- Ensembl rs886044768
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.40
- MetaLR 0.35
- MetaSVM -0.58
- PolyPhen-2 0.36
- SIFT 0.00
- EVE 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available