M131I (p.Met131Ile) variant of L1CAM (Neural cell adhesion molecule L1)
M131I (p.Met131Ile) 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 Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M131I (p.Met131Ile) variant details
- p.Met131Ile
- rs782178903
- ClinGen CA10554607
- ClinVar RCV003590935
- ExAC rs782178903
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available