N408D (p.Asn408Asp) variant of L1CAM (Neural cell adhesion molecule L1)
N408D (p.Asn408Asp) 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 MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
N408D (p.Asn408Asp) variant details
- p.Asn408Asp
- rs2064747653
- ClinGen CA415129395
- ClinVar RCV001260986
- Ensembl rs2064747653
- Likely pathogenic
- MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (MASA syndrome)
- EBI: Likely pathogenic (in HYCX)
- UniProt: Likely pathogenic (in HYCX)
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)