A55T (p.Ala55Thr) variant of AIP (AH receptor-interacting protein)
A55T (p.Ala55Thr) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs764160345
- ClinGen CA381546688
- ClinVar RCV001323242
- ClinVar RCV002402902
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.81
- CADD 3.54
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)