I4V (p.Ile4Val) variant of AIP (AH receptor-interacting protein)
I4V (p.Ile4Val) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs1865725901
- ClinGen CA381545651
- ClinVar RCV002021258
- ClinVar RCV003303652
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.24
- AlphaMissense 0.13
- MetaLR 0.49
- MetaSVM -0.51
- CADD 16.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)