K180R (p.Lys180Arg) variant of L1CAM (Neural cell adhesion molecule L1)
K180R (p.Lys180Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K180R (p.Lys180Arg) variant details
- p.Lys180Arg
- ExAC rs782537495
- gnomAD rs782537495
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available