L56F (p.Leu56Phe) variant of CDH2 (Cadherin-2)
L56F (p.Leu56Phe) in CDH2 (Cadherin-2) 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 0.43 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- NCI-TCGA Cosmic COSV5228
- NCI-TCGA Cosmic COSV5229
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.23
- MetaLR 0.24
- MetaSVM -0.76
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available