T19S (p.Thr19Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
T19S (p.Thr19Ser) in COL3A1 (Collagen alpha-1(III) chain) 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; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- rs1300339107
- ClinGen CA349845451
- ClinVar RCV002796601
- ClinVar RCV003528413
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.52
- PolyPhen-2 0.06
- SIFT 0.22
- MutPred 0.72
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)