V8L (p.Val8Leu) variant of L1CAM (Neural cell adhesion molecule L1)
V8L (p.Val8Leu) 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 not provided; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs2064809371
- Ensembl rs2064809371
- ClinGen CA415143174
- ClinVar RCV003751520
- Uncertain significance
- not provided; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.05
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available