D72N (p.Asp72Asn) variant of L1CAM (Neural cell adhesion molecule L1)
D72N (p.Asp72Asn) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- rs1557093462
- gnomAD rs1557093462
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.26
- CADD 21.30
- PolyPhen-2 0.35
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available