Q109H (p.Gln109His) variant of L1CAM (Neural cell adhesion molecule L1)
Q109H (p.Gln109His) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q109H (p.Gln109His) variant details
- p.Gln109His
- ExAC rs782151953
- gnomAD rs782151953
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available