A55S (p.Ala55Ser) variant of AIP (AH receptor-interacting protein)
A55S (p.Ala55Ser) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- rs764160345
- ClinGen CA6140743
- ClinVar RCV002403537
- ClinVar RCV003097043
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- MetaLR 0.36
- MetaSVM -0.75
- CADD 1.43
- PolyPhen-2 0.01
- SIFT 0.67
- 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 2.9e-05)
- 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)