E110Q (p.Glu110Gln) variant of CDH2 (Cadherin-2)
E110Q (p.Glu110Gln) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
E110Q (p.Glu110Gln) variant details
- p.Glu110Gln
- cosmic curated COSV99296
- ExAC rs552668002
- TOPMed rs552668002
- gnomAD rs552668002
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.98
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available