G28R (p.Gly28Arg) variant of L1CAM (Neural cell adhesion molecule L1)
G28R (p.Gly28Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- cosmic curated COSV62829
- TOPMed rs1557093752
- gnomAD rs1557093752
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available