D45N (p.Asp45Asn) variant of AIP (AH receptor-interacting protein)
D45N (p.Asp45Asn) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs574205552
- ClinGen CA6140733
- NCI-TCGA Cosmic COSV5416
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.25
- MetaLR 0.41
- MetaSVM -0.66
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)