T111S (p.Thr111Ser) variant of CDH2 (Cadherin-2)
T111S (p.Thr111Ser) 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 structural context.
T111S (p.Thr111Ser) variant details
- p.Thr111Ser
- rs2144038076
- ClinGen CA402244226
- ClinVar RCV001757500
- Ensembl rs2144038076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.36
- SIFT 0.21
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available