V49M (p.Val49Met) variant of AIP (AH receptor-interacting protein)
V49M (p.Val49Met) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs1063385
- ClinGen CA344063
- ClinVar RCV000034063
- ClinVar RCV000563699
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.71
- MetaLR 0.82
- MetaSVM 0.71
- CADD 21.50
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Somatotro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- 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)