V22M (p.Val22Met) variant of MUTYH (Adenine DNA glycosylase)
V22M (p.Val22Met) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. 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.
V22M (p.Val22Met) variant details
- p.Val22Met
- rs3219484
- ClinGen CA011797
- cosmic curated COSV62742
- ClinVar RCV000034677
- Benign
- Hereditary cancer-predisposing syndrome; not specified; not provided
- 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: Benign (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. (PMID 12606733)
- Cited in: Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. (PMID 16134147)