P263S (p.Pro263Ser) variant of SMAD3 (SMAD family member 3)
P263S (p.Pro263Ser) 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 Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P263S (p.Pro263Ser) variant details
- p.Pro263Ser
- rs863223739
- ClinGen CA392956266
- ClinVar RCV000539900
- ClinVar RCV000768094
- Conflicting interpretations
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Conflicting classifications of pathogenicity (Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneur)
- 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)