G25S (p.Gly25Ser) variant of MUTYH (Adenine DNA glycosylase)
G25S (p.Gly25Ser) 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 Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs764645557
- ClinGen CA026524
- ClinVar RCV000814205
- ExAC rs764645557
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.55
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.21
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)