P166A (p.Pro166Ala) variant of L1CAM (Neural cell adhesion molecule L1)
P166A (p.Pro166Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P166A (p.Pro166Ala) variant details
- p.Pro166Ala
- rs2064765468
- ClinGen CA415136380
- ClinVar RCV003590894
- TOPMed rs2064765468
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.63
- SIFT 0.05
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available