R3W (p.Arg3Trp) variant of CDH2 (Cadherin-2)
R3W (p.Arg3Trp) 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 0.38 / 1. The record also includes population frequency data and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- ExAC rs761151029
- TOPMed rs761151029
- gnomAD rs761151029
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.00
- CADD 25.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available