D30Y (p.Asp30Tyr) variant of AIP (AH receptor-interacting protein)
D30Y (p.Asp30Tyr) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- rs1323103083
- ClinGen CA381545876
- ClinVar RCV001226942
- ClinVar RCV002375227
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.57
- MetaLR 0.73
- MetaSVM 0.53
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)