E10K (p.Glu10Lys) variant of MAX (Protein max)
E10K (p.Glu10Lys) in MAX (Protein max) 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 0.80 / 1. The record also includes published literature and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs2139976890
- ClinGen CA390038962
- cosmic curated COSV52420
- ClinVar RCV004513573
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.29
- 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)