G1056S (p.Gly1056Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
G1056S (p.Gly1056Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Micrognat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1056S (p.Gly1056Ser) variant details
- p.Gly1056Ser
- rs1223008559
- ClinGen CA349845140
- NCI-TCGA Cosmic COSV5858
- ClinVar RCV001558708
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Micrognat
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)