P154L (p.Pro154Leu) variant of MUTYH (Adenine DNA glycosylase)
P154L (p.Pro154Leu) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P154L (p.Pro154Leu) variant details
- p.Pro154Leu
- rs777184451
- ClinGen CA013620
- ClinVar RCV000165108
- ClinVar RCV000226581
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.40
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- 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: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (PMID 16557584)
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)