D493H (p.Asp493His) variant of SMAD4 (SMAD family member 4)
D493H (p.Asp493His) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of pancreas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D493H (p.Asp493His) variant details
- p.Asp493His
- rs121912578
- ClinGen CA119722
- cosmic curated COSV61683
- ClinVar RCV000009064
- Pathogenic
- Carcinoma of pancreas
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.92
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic (Carcinoma of pancreas)
- EBI: Pathogenic (in pancreatic carcinoma)
- UniProt: Pathogenic (in pancreatic carcinoma)
- Structural context available
- Cited in: DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. (PMID 8553070)
- Cited in: DPC4 gene in various tumor types. (PMID 8653691)