E83K (p.Glu83Lys) variant of CDH2 (Cadherin-2)
E83K (p.Glu83Lys) 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 0.35 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- cosmic curated COSV10586
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.91
- CADD 21.60
- PolyPhen-2 0.26
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available