A55V (p.Ala55Val) variant of AIP (AH receptor-interacting protein)
A55V (p.Ala55Val) 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; Somatotroph adenoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs1865805899
- ClinGen CA381546698
- ClinVar RCV001322598
- ClinVar RCV003284193
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Somatotroph adenoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.23
- MetaLR 0.36
- MetaSVM -0.80
- CADD 3.30
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Somatotroph adenoma; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-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)