G819D (p.Gly819Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G819D (p.Gly819Asp) 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 not provided; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G819D (p.Gly819Asp) variant details
- p.Gly819Asp
- rs2153503368
- ClinGen CA349842718
- ClinVar RCV002038971
- ClinVar RCV003225221
- Pathogenic/Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)