S46W (p.Ser46Trp) variant of CDH2 (Cadherin-2)
S46W (p.Ser46Trp) in CDH2 (Cadherin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S46W (p.Ser46Trp) variant details
- p.Ser46Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.89
- CADD 26.00
- PolyPhen-2 0.61
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available