G280S (p.Gly280Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G280S (p.Gly280Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, arthrochalasia type, 2; Cardiovascular phenotype; Ehlers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G280S (p.Gly280Ser) variant details
- p.Gly280Ser
- rs72656387
- ClinGen CA260386
- ClinVar RCV000029613
- ClinVar RCV000517418
- Pathogenic
- Ehlers-Danlos syndrome, arthrochalasia type, 2; Cardiovascular phenotype; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, arthrochalasia type, 2; Cardiovascular p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)