Q107E (p.Gln107Glu) variant of CDH2 (Cadherin-2)
Q107E (p.Gln107Glu) 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 0.23 / 1. The record also includes population frequency data and structural context.
Q107E (p.Gln107Glu) variant details
- p.Gln107Glu
- rs756870194
- ClinGen CA8923730
- ClinVar RCV003858663
- ExAC rs756870194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.91
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available