M1T (p.Met1Thr) variant of AIP (AH receptor-interacting protein)
M1T (p.Met1Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs267606546
- ClinGen CA344090
- ClinVar RCV000034072
- ClinVar RCV003556103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- MetaLR 0.73
- MetaSVM 0.56
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)