P800H (p.Pro800His) variant of L1CAM (Neural cell adhesion molecule L1)
P800H (p.Pro800His) 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 0.53 / 1. The record also includes published literature and structural context.
P800H (p.Pro800His) variant details
- p.Pro800His
- rs2148495027
- ClinGen CA415118292
- ClinVar RCV002274447
- Ensembl rs2148495027
- Likely pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.91
- MetaLR 0.36
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (X-linked hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)