A14T (p.Ala14Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
A14T (p.Ala14Thr) 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; not provided; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs547373542
- ClinGen CA62577062
- ClinVar RCV001177894
- ClinVar RCV002290616
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM -0.54
- CADD 18.30
- PolyPhen-2 0.38
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)