R9W (p.Arg9Trp) variant of CDH2 (Cadherin-2)
R9W (p.Arg9Trp) 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 0.32 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- 1000Genomes rs1403830213
- TOPMed rs1403830213
- gnomAD rs1403830213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.03
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available