N235S (p.Asn235Ser) variant of MUTYH (Adenine DNA glycosylase)
N235S (p.Asn235Ser) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N235S (p.Asn235Ser) variant details
- p.Asn235Ser
- rs1057517765
- ClinGen CA16042398
- ClinVar RCV000414648
- ClinVar RCV000502397
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.57
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or… (PMID 18515411)
- Cited in: Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese… (PMID 26694661)