E72D (p.Glu72Asp) variant of CDH2 (Cadherin-2)
E72D (p.Glu72Asp) 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 0.22 / 1. The record also includes population frequency data and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- NCI-TCGA Cosmic COSV5227
- cosmic curated COSV52278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.99
- CADD 11.00
- PolyPhen-2 0.31
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available