L4F (p.Leu4Phe) variant of MUTYH (Adenine DNA glycosylase)
L4F (p.Leu4Phe) 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 not specified; Hereditary cancer-predisposing syndrome; Familial adenomatous pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs587782404
- ClinGen CA340137905
- ClinVar RCV000772839
- ClinVar RCV000804149
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Familial adenomatous pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- CADD 12.20
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)