G134A (p.Gly134Ala) variant of L1CAM (Neural cell adhesion molecule L1)
G134A (p.Gly134Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G134A (p.Gly134Ala) variant details
- p.Gly134Ala
- TOPMed rs1305263894
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.33
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available