E31K (p.Glu31Lys) variant of SMAD4 (SMAD family member 4)
E31K (p.Glu31Lys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs1909568048
- ClinGen CA402457586
- cosmic curated COSV61688
- ClinVar RCV001185676
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.88
- MetaLR 0.51
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)