R67I (p.Arg67Ile) variant of CDH2 (Cadherin-2)
R67I (p.Arg67Ile) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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.
R67I (p.Arg67Ile) variant details
- p.Arg67Ile
- ExAC rs766988186
- TOPMed rs766988186
- gnomAD rs766988186
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.10
- PolyPhen-2 0.42
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available