A30P (p.Ala30Pro) variant of MUTYH (Adenine DNA glycosylase)
A30P (p.Ala30Pro) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- rs1557492581
- ClinGen CA340137151
- ClinVar RCV003182808
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM -0.34
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.12
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)