G73C (p.Gly73Cys) variant of L1CAM (Neural cell adhesion molecule L1)
G73C (p.Gly73Cys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G73C (p.Gly73Cys) variant details
- p.Gly73Cys
- Ensembl rs2148500138
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.66
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available