N100K (p.Asn100Lys) variant of L1CAM (Neural cell adhesion molecule L1)
N100K (p.Asn100Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N100K (p.Asn100Lys) variant details
- p.Asn100Lys
- Ensembl rs1239375900
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available