R6W (p.Arg6Trp) variant of CDH1 (Cadherin-1)
R6W (p.Arg6Trp) in CDH1 (Cadherin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs371990144
- gnomAD 19-3523008-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.79
- CADD 27.20
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available