T35M (p.Thr35Met) variant of AIP (AH receptor-interacting protein)
T35M (p.Thr35Met) 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 Somatotroph adenoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- rs376797001
- ClinGen CA6140723
- ClinVar RCV000563836
- ClinVar RCV001068537
- Uncertain significance
- Somatotroph adenoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.43
- MetaLR 0.75
- MetaSVM 0.50
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Somatotroph adenoma; Hereditary cancer-predisposing syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)