Q20E (p.Gln20Glu) variant of CDH2 (Cadherin-2)
Q20E (p.Gln20Glu) 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 0.37 / 1. The record also includes population frequency data and structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- rs2510801262
- ClinGen CA402245031
- ClinVar RCV002996894
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available