G393D (p.Gly393Asp) variant of MUTYH (Adenine DNA glycosylase)
G393D (p.Gly393Asp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pleomorphic xanthoastrocytoma BRAF mutant; Inherited polyposis and early onset c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G393D (p.Gly393Asp) variant details
- p.Gly393Asp
- rs36053993
- ClinGen CA011561
- cosmic curated COSV58343
- ClinVar RCV000005614
- Pathogenic/Likely pathogenic
- Pleomorphic xanthoastrocytoma BRAF mutant; Inherited polyposis and early onset c
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.82
- MetaLR 0.64
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic/Likely pathogenic (Pleomorphic xanthoastrocytoma BRAF mutant; Inherited polyposis a)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. (PMID 11818965)
- Cited in: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. (PMID 12606733)