E10G (p.Glu10Gly) variant of AIP (AH receptor-interacting protein)
E10G (p.Glu10Gly) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- rs2134247661
- ClinGen CA381545753
- ClinVar RCV001990409
- ClinVar RCV005572756
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.09
- MetaLR 0.52
- MetaSVM -0.21
- SIFT 0.08
- MutPred 0.53
- ClinVar: Uncertain significance (not provided; 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)