P48T (p.Pro48Thr) variant of MUTYH (Adenine DNA glycosylase)
P48T (p.Pro48Thr) 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.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- rs786203069
- ClinGen CA012777
- ClinVar RCV000166209
- Ensembl rs786203069
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.25
- PolyPhen-2 0.19
- SIFT 0.01
- MutPred 0.28
- 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)