P3A (p.Pro3Ala) variant of MUTYH (Adenine DNA glycosylase)
P3A (p.Pro3Ala) 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 0.29 / 1. The record also includes published literature and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- rs876659091
- ClinGen CA10577757
- ClinVar RCV000217552
- gnomAD rs876659091
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.16
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)