D598N (p.Asp598Asn) variant of L1CAM (Neural cell adhesion molecule L1)
D598N (p.Asp598Asn) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MASA syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
D598N (p.Asp598Asn) variant details
- p.Asp598Asn
- rs137852519
- ClinGen CA254957
- ClinVar RCV000010670
- UniProt VAR 003937
- Pathogenic
- MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.87
- MetaLR 0.26
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (MASA syndrome)
- EBI: Pathogenic (in MASA)
- UniProt: Pathogenic (in MASA)
- Structural context available
- Cited in: MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. (PMID 7920660)
- Cited in: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and… (PMID 8556302)