L385P (p.Leu385Pro) variant of MUTYH (Adenine DNA glycosylase)
L385P (p.Leu385Pro) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L385P (p.Leu385Pro) variant details
- p.Leu385Pro
- rs1060501335
- ClinGen CA16610175
- ClinVar RCV000465018
- ClinVar RCV000771347
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. (PMID 16134147)
- Cited in: Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. (PMID 16941501)