D45V (p.Asp45Val) variant of AIP (AH receptor-interacting protein)
D45V (p.Asp45Val) 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.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- rs2495395750
- ClinGen CA381546501
- ClinVar RCV002387909
- ClinVar RCV003108070
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.56
- CADD 9.27
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)