G432D (p.Gly432Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G432D (p.Gly432Asp) 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 0.92 / 1. The record also includes published literature and structural context.
G432D (p.Gly432Asp) variant details
- p.Gly432Asp
- rs1688258933
- ClinGen CA349851613
- cosmic curated COSV10605
- ClinVar RCV001070841
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- 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)