G411W (p.Gly411Trp) variant of L1CAM (Neural cell adhesion molecule L1)
G411W (p.Gly411Trp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked hydrocephalus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G411W (p.Gly411Trp) variant details
- p.Gly411Trp
- rs1262433336
- ClinGen CA415129324
- ClinVar RCV003989032
- Likely pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.97
- MetaLR 0.70
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (X-linked hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)