H91Q (p.His91Gln) variant of L1CAM (Neural cell adhesion molecule L1)
H91Q (p.His91Gln) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H91Q (p.His91Gln) variant details
- p.His91Gln
- ExAC rs782676482
- gnomAD rs782676482
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- CADD 10.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available