H210Q (p.His210Gln) variant of L1CAM (Neural cell adhesion molecule L1)
H210Q (p.His210Gln) 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 0.44 / 1. The record also includes published literature and structural context.
H210Q (p.His210Gln) variant details
- p.His210Gln
- rs28933683
- ESP rs28933683
- ExAC rs28933683
- TOPMed rs28933683
- Pathogenic
- MASA syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.87
- MetaLR 0.31
- MetaSVM -0.57
- PolyPhen-2 0.39
- SIFT 0.02
- EVE 0.47
- ClinVar: Pathogenic (MASA syndrome)
- EBI: Pathogenic (in MASA)
- UniProt: Pathogenic (in MASA)
- Structural context available
- Cited in: L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. (PMID 22973895)
- Cited in: Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. (PMID 24155914)