K68I (p.Lys68Ile) variant of CDH2 (Cadherin-2)
K68I (p.Lys68Ile) 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 0.35 / 1. The record also includes structural context.
K68I (p.Lys68Ile) variant details
- p.Lys68Ile
- rs2013168180
- ClinGen CA402244749
- ClinVar RCV002646936
- TOPMed rs2013168180
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.71
- PolyPhen-2 0.46
- SIFT 0.05
- MutPred 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available