E130G (p.Glu130Gly) variant of CDH2 (Cadherin-2)
E130G (p.Glu130Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E130G (p.Glu130Gly) variant details
- p.Glu130Gly
- rs2510818553
- ClinGen CA402244102
- ClinVar RCV002899699
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available