L16V (p.Leu16Val) variant of SMAD3 (SMAD family member 3)
L16V (p.Leu16Val) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs2140188791
- ClinGen CA393202758
- ClinVar RCV001525816
- ClinVar RCV004008874
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.40
- CADD 20.50
- PolyPhen-2 0.26
- SIFT 0.08
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)