P59S (p.Pro59Ser) variant of MUTYH (Adenine DNA glycosylase)
P59S (p.Pro59Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs1279830238
- ClinGen CA340136773
- ClinVar RCV001013379
- ClinVar RCV003614066
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.01
- CADD 11.50
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)