M1I (p.Met1Ile) variant of L1CAM (Neural cell adhesion molecule L1)
M1I (p.Met1Ile) 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 0.57 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1603277433
- ClinGen CA415143345
- ClinVar RCV000990984
- Likely pathogenic
- X-linked hydrocephalus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.56
- MetaSVM 0.18
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (X-linked hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)