A13T (p.Ala13Thr) variant of MUTYH (Adenine DNA glycosylase)
A13T (p.Ala13Thr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs375349172
- ClinGen CA338910
- ClinVar RCV000199845
- ClinVar RCV000216921
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 10.00
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)