A116G (p.Ala116Gly) variant of L1CAM (Neural cell adhesion molecule L1)
A116G (p.Ala116Gly) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A116G (p.Ala116Gly) variant details
- p.Ala116Gly
- ExAC rs782704314
- TOPMed rs782704314
- gnomAD rs782704314
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.48
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available