V47A (p.Val47Ala) variant of L1CAM (Neural cell adhesion molecule L1)
V47A (p.Val47Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- ESP rs143684296
- ExAC rs143684296
- TOPMed rs143684296
- gnomAD rs143684296
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.49
- SIFT 0.32
- ClinVar: Uncertain significance (Spastic paraplegia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available