M124V (p.Met124Val) variant of L1CAM (Neural cell adhesion molecule L1)
M124V (p.Met124Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
M124V (p.Met124Val) variant details
- p.Met124Val
- rs1366669213
- ClinGen CA415137589
- ClinVar RCV003590786
- TOPMed rs1366669213
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.16
- SIFT 0.90
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available