G396D (p.Gly396Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G396D (p.Gly396Asp) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G396D (p.Gly396Asp) variant details
- p.Gly396Asp
- rs2469127921
- ClinGen CA349851254
- ClinVar RCV002771278
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- CADD 24.00
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic
- UniProt: Likely 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)