G570S (p.Gly570Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
G570S (p.Gly570Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G570S (p.Gly570Ser) variant details
- p.Gly570Ser
- rs1553508238
- ClinGen CA349852713
- ClinVar RCV000634716
- ClinVar RCV005801844
- Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)