P263L (p.Pro263Leu) variant of SMAD3 (SMAD family member 3)
P263L (p.Pro263Leu) 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; Familial thoracic aortic aneurysm and aortic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P263L (p.Pro263Leu) variant details
- p.Pro263Leu
- rs387906855
- ClinGen CA020114
- cosmic curated COSV59285
- ClinVar RCV000023249
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneur)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. (PMID 22167769)
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)