K33E (p.Lys33Glu) variant of AIP (AH receptor-interacting protein)
K33E (p.Lys33Glu) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs750116890
- ClinGen CA6140685
- ClinVar RCV001065019
- ClinVar RCV002379592
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.82
- MetaLR 0.62
- MetaSVM 0.32
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)