T19A (p.Thr19Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
T19A (p.Thr19Ala) 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 not specified; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- rs1300339107
- ClinGen CA349845449
- ClinVar RCV000793216
- ClinVar RCV001187007
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-D
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.22
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.52
- CADD 15.40
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)