I22V (p.Ile22Val) variant of L1CAM (Neural cell adhesion molecule L1)
I22V (p.Ile22Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- rs2064808887
- ClinGen CA415142607
- ClinVar RCV002601140
- gnomAD rs2064808887
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available