Q19H (p.Gln19His) variant of AIP (AH receptor-interacting protein)
Q19H (p.Gln19His) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- rs2134247730
- ClinGen CA381545814
- ClinVar RCV001945668
- ClinVar RCV005834110
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.20
- MetaLR 0.33
- MetaSVM -0.66
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)