V5L (p.Val5Leu) variant of MUTYH (Adenine DNA glycosylase)
V5L (p.Val5Leu) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- rs786201933
- ClinGen CA012678
- ClinVar RCV000164470
- ClinVar RCV001850298
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.01
- PolyPhen-2 0.08
- SIFT 0.12
- MutPred 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Likely benign
- UniProt: Likely benign
- 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)