T2P (p.Thr2Pro) variant of MUTYH (Adenine DNA glycosylase)
T2P (p.Thr2Pro) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
T2P (p.Thr2Pro) variant details
- p.Thr2Pro
- rs1646822689
- ClinGen CA340137919
- ClinVar RCV001297434
- Ensembl rs1646822689
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)