E22K (p.Glu22Lys) variant of SMAD3 (SMAD family member 3)
E22K (p.Glu22Lys) in SMAD3 (SMAD family member 3) 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 0.43 / 1. The record also includes structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs2140188822
- ClinGen CA393202797
- ClinVar RCV002244470
- Ensembl rs2140188822
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.77
- MetaLR 0.33
- MetaSVM -0.32
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available