E129K (p.Glu129Lys) variant of CDH2 (Cadherin-2)
E129K (p.Glu129Lys) 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 0.33 / 1. The record also includes structural context.
E129K (p.Glu129Lys) variant details
- p.Glu129Lys
- rs963079228
- NCI-TCGA Cosmic COSV5229
- cosmic curated COSV52291
- TOPMed rs963079228
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.43
- MutPred 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available