M131V (p.Met131Val) variant of L1CAM (Neural cell adhesion molecule L1)
M131V (p.Met131Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M131V (p.Met131Val) variant details
- p.Met131Val
- rs782416322
- ClinGen CA10554608
- ClinVar RCV003088802
- ClinVar RCV003434573
- Likely benign
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.15
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (Spastic paraplegia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available