L8P (p.Leu8Pro) variant of MUTYH (Adenine DNA glycosylase)
L8P (p.Leu8Pro) 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 Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- rs1570591840
- ClinGen CA340137867
- ClinVar RCV003049314
- ClinVar RCV003170923
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -0.98
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)