P292L (p.Pro292Leu) variant of MUTYH (Adenine DNA glycosylase)
P292L (p.Pro292Leu) 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 Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P292L (p.Pro292Leu) variant details
- p.Pro292Leu
- rs374950566
- ClinGen CA014557
- ClinVar RCV000164625
- ClinVar RCV000235921
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.58
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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: Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. (PMID 16941501)