P59A (p.Pro59Ala) variant of MUTYH (Adenine DNA glycosylase)
P59A (p.Pro59Ala) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- rs1279830238
- ClinGen CA340136775
- ClinVar RCV004523664
- ClinVar RCV005059517
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.02
- SIFT 0.09
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)