G1068C (p.Gly1068Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
G1068C (p.Gly1068Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G1068C (p.Gly1068Cys) variant details
- p.Gly1068Cys
- rs1559061954
- ClinGen CA349845231
- ClinVar RCV000693892
- Ensembl rs1559061954
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4)
- 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)