R7L (p.Arg7Leu) variant of MUTYH (Adenine DNA glycosylase)
R7L (p.Arg7Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs1114167687
- ClinGen CA340137875
- ClinVar RCV000491930
- ClinVar RCV001238814
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.01
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)