I5V (p.Ile5Val) variant of AIP (AH receptor-interacting protein)
I5V (p.Ile5Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- rs1258945045
- ClinVar RCV004575808
- ClinVar RCV005101924
- TOPMed rs1258945045
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.69
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)