V331F (p.Val331Phe) variant of SMAD3 (SMAD family member 3)
V331F (p.Val331Phe) 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 Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
V331F (p.Val331Phe) variant details
- p.Val331Phe
- rs1320208623
- ClinGen CA392957297
- ClinVar RCV000993705
- ClinVar RCV002536205
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Aneurys)
- EBI: Likely pathogenic
- UniProt: Likely 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)