G47A (p.Gly47Ala) variant of AIP (AH receptor-interacting protein)
G47A (p.Gly47Ala) 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 0.59 / 1. The record also includes published literature and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs1164577485
- ClinGen CA381546555
- ClinVar RCV002389471
- ClinVar RCV005097503
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.11
- MetaLR 0.80
- MetaSVM 0.38
- SIFT 0.12
- MutPred 0.88
- 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)