C539G (p.Cys539Gly) variant of L1CAM (Neural cell adhesion molecule L1)
C539G (p.Cys539Gly) 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 0.92 / 1. The record also includes published literature and structural context.
C539G (p.Cys539Gly) variant details
- p.Cys539Gly
- rs886041102
- ClinGen CA10602720
- ClinVar RCV000258946
- Ensembl rs886041102
- Likely pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (X-linked hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)