R243P (p.Arg243Pro) variant of SMAD3 (SMAD family member 3)
R243P (p.Arg243Pro) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
R243P (p.Arg243Pro) variant details
- p.Arg243Pro
- rs863223736
- ClinGen CA392956077
- ClinVar RCV001579621
- TOPMed rs863223736
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available