Q14P (p.Gln14Pro) variant of AIP (AH receptor-interacting protein)
Q14P (p.Gln14Pro) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q14P (p.Gln14Pro) variant details
- p.Gln14Pro
- rs1317189253
- ClinGen CA381545778
- ClinVar RCV001022033
- ClinVar RCV001063933
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.56
- MetaLR 0.65
- MetaSVM 0.15
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.11
- 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 8.8e-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)