G876A (p.Gly876Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
G876A (p.Gly876Ala) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G876A (p.Gly876Ala) variant details
- p.Gly876Ala
- rs1158155272
- ClinGen CA349843575
- ClinVar RCV001269145
- TOPMed rs1158155272
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 29.40
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)