V5I (p.Val5Ile) variant of MUTYH (Adenine DNA glycosylase)
V5I (p.Val5Ile) 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 Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs786201933
- ClinGen CA340137894
- ClinVar RCV000776242
- ClinVar RCV003461040
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.01
- CADD 8.56
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)