L8R (p.Leu8Arg) variant of AIP (AH receptor-interacting protein)
L8R (p.Leu8Arg) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs555159979
- ClinGen CA224160832
- ClinVar RCV001352563
- ClinVar RCV002431998
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.88
- MetaLR 0.85
- MetaSVM 0.87
- CADD 29.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)