P145S (p.Pro145Ser) variant of L1CAM (Neural cell adhesion molecule L1)
P145S (p.Pro145Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
P145S (p.Pro145Ser) variant details
- p.Pro145Ser
- rs1043690256
- ClinGen CA337263942
- ClinVar RCV003590974
- TOPMed rs1043690256
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available