M280V (p.Met280Val) variant of MUTYH (Adenine DNA glycosylase)
M280V (p.Met280Val) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M280V (p.Met280Val) variant details
- p.Met280Val
- rs876659676
- ClinGen CA10577722
- ClinVar RCV000216419
- ClinVar RCV000479475
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.65
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- 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: Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. (PMID 16941501)
- Cited in: Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal… (PMID 20848659)