L45M (p.Leu45Met) variant of L1CAM (Neural cell adhesion molecule L1)
L45M (p.Leu45Met) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- rs370373282
- ClinGen CA10554655
- ClinVar RCV003992912
- ESP rs370373282
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- CADD 23.80
- PolyPhen-2 0.79
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available