E24D (p.Glu24Asp) variant of AIP (AH receptor-interacting protein)
E24D (p.Glu24Asp) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs201958318
- ClinGen CA6140675
- ClinVar RCV000576100
- ClinVar RCV000914288
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.21
- MetaLR 0.32
- MetaSVM -0.72
- CADD 4.91
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- 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)