R184Q (p.Arg184Gln) variant of L1CAM (Neural cell adhesion molecule L1)
R184Q (p.Arg184Gln) 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 Inborn genetic diseases; Spastic paraplegia; L1 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R184Q (p.Arg184Gln) variant details
- p.Arg184Gln
- rs137852521
- ClinGen CA254959
- ClinVar RCV000010672
- ClinVar RCV001824565
- Pathogenic
- Inborn genetic diseases; Spastic paraplegia; L1 syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.55
- MetaLR 0.74
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Inborn genetic diseases; Spastic paraplegia; L1 syndrome)
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available
- Cited in: Sex-linked hydrocephalus. Report of a family with 15 affected members. (PMID 13889294)
- Cited in: Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. (PMID 18136715)