G855C (p.Gly855Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
G855C (p.Gly855Cys) 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 Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G855C (p.Gly855Cys) variant details
- p.Gly855Cys
- rs2153503430
- ClinGen CA349843442
- ClinVar RCV001998849
- ClinVar RCV002497955
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehl
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without v)
- EBI: Pathogenic
- UniProt: 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)