R243C (p.Arg243Cys) variant of SMAD3 (SMAD family member 3)
R243C (p.Arg243Cys) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome; not specified; Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R243C (p.Arg243Cys) variant details
- p.Arg243Cys
- rs886039137
- ClinGen CA10587874
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59283
- Conflicting interpretations
- Ehlers-Danlos syndrome; not specified; Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome; not specified; Aneurysm-osteoarthritis s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)