G177A (p.Gly177Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
G177A (p.Gly177Ala) 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 Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G177A (p.Gly177Ala) variant details
- p.Gly177Ala
- rs2153501733
- ClinGen CA349848212
- ClinVar RCV002002610
- ClinVar RCV005804426
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.34
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.65
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- 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)