E134Q (p.Glu134Gln) variant of CDH2 (Cadherin-2)
E134Q (p.Glu134Gln) in CDH2 (Cadherin-2) is a missense change. 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.
E134Q (p.Glu134Gln) variant details
- p.Glu134Gln
- TOPMed rs2013114932
- gnomAD rs2013114932
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.91
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available