K19E (p.Lys19Glu) variant of SMAD2 (SMAD family member 2)
K19E (p.Lys19Glu) in SMAD2 (SMAD family member 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 0.58 / 1. The record also includes structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- rs2144475139
- ClinGen CA402503536
- ClinVar RCV002029002
- Ensembl rs2144475139
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.90
- MetaLR 0.56
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available