P59R (p.Pro59Arg) variant of MUTYH (Adenine DNA glycosylase)
P59R (p.Pro59Arg) 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 0.32 / 1. The record also includes published literature and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- rs1570446625
- ClinGen CA340136771
- ClinVar RCV000814087
- Ensembl rs1570446625
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.62
- SIFT 0.02
- MutPred 0.36
- 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)