A6E (p.Ala6Glu) variant of AIP (AH receptor-interacting protein)
A6E (p.Ala6Glu) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- rs1199047377
- ClinGen CA381545699
- ClinVar RCV002407870
- ClinVar RCV005097768
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- MetaLR 0.51
- MetaSVM -0.53
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)