R129L (p.Arg129Leu) variant of L1CAM (Neural cell adhesion molecule L1)
R129L (p.Arg129Leu) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R129L (p.Arg129Leu) variant details
- p.Arg129Leu
- ExAC rs200809259
- TOPMed rs200809259
- gnomAD rs200809259
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.18
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available