S423R (p.Ser423Arg) variant of SMAD3 (SMAD family member 3)
S423R (p.Ser423Arg) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S423R (p.Ser423Arg) variant details
- p.Ser423Arg
- rs1060500772
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)