A30V (p.Ala30Val) variant of MUTYH (Adenine DNA glycosylase)
A30V (p.Ala30Val) 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 0.49 / 1. The record also includes published literature and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs1570465480
- ClinGen CA340137147
- ClinVar RCV000819657
- ClinVar RCV005672490
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM -0.29
- PolyPhen-2 0.34
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)