M1I (p.Met1Ile) variant of AIP (AH receptor-interacting protein)
M1I (p.Met1Ile) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial isolated pituitary adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs886037871
- ClinGen CA10586312
- ClinVar RCV000240114
- Likely pathogenic
- Familial isolated pituitary adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- MetaLR 0.71
- MetaSVM 0.55
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (Familial isolated pituitary adenoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available