H26D (p.His26Asp) variant of MUTYH (Adenine DNA glycosylase)
H26D (p.His26Asp) 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 population frequency data, published literature, and structural context.
H26D (p.His26Asp) variant details
- p.His26Asp
- rs2149188841
- ClinGen CA340137180
- ClinVar RCV001881408
- ClinVar RCV005672799
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM -0.27
- PolyPhen-2 0.09
- SIFT 0.24
- MutPred 0.24
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)