L98P (p.Leu98Pro) variant of MUTYH (Adenine DNA glycosylase)
L98P (p.Leu98Pro) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L98P (p.Leu98Pro) variant details
- p.Leu98Pro
- rs876660011
- ClinGen CA10577745
- ClinVar RCV000219482
- ClinVar RCV001853603
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.83
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)