S96F (p.Ser96Phe) variant of CDH2 (Cadherin-2)
S96F (p.Ser96Phe) in CDH2 (Cadherin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S96F (p.Ser96Phe) variant details
- p.Ser96Phe
- NCI-TCGA TCGA novel
- gnomAD rs1361176600
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.17
- MetaLR 0.30
- MetaSVM -0.70
- CADD 22.40
- PolyPhen-2 0.26
- SIFT 0.04
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available