E137K (p.Glu137Lys) variant of CDH2 (Cadherin-2)
E137K (p.Glu137Lys) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- gnomAD rs1248902182
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -0.93
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available