H29R (p.His29Arg) variant of L1CAM (Neural cell adhesion molecule L1)
H29R (p.His29Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- ExAC rs782772477
- TOPMed rs782772477
- gnomAD rs782772477
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available