V22L (p.Val22Leu) variant of MUTYH (Adenine DNA glycosylase)
V22L (p.Val22Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- rs3219484
- ClinGen CA340137214
- ClinVar RCV000566823
- ClinVar RCV000701653
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.64
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)