L25F (p.Leu25Phe) variant of AIP (AH receptor-interacting protein)
L25F (p.Leu25Phe) 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; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs777083581
- ClinGen CA6140676
- ClinVar RCV001227005
- ClinVar RCV002255634
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.55
- AlphaMissense 0.27
- MetaLR 0.83
- MetaSVM 0.78
- CADD 23.80
- PolyPhen-2 0.68
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Somatotro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)