D84G (p.Asp84Gly) variant of CDH2 (Cadherin-2)
D84G (p.Asp84Gly) 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 0.49 / 1. The record also includes population frequency data and structural context.
D84G (p.Asp84Gly) variant details
- p.Asp84Gly
- rs373421991
- ClinGen CA8923742
- ClinVar RCV003842024
- ESP rs373421991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.46
- MetaLR 0.35
- MetaSVM -0.39
- CADD 24.70
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available