P10A (p.Pro10Ala) variant of L1CAM (Neural cell adhesion molecule L1)
P10A (p.Pro10Ala) 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 0.20 / 1. The record also includes population frequency data and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- 1000Genomes rs144605615
- ESP rs144605615
- ExAC rs144605615
- TOPMed rs144605615
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available