G57S (p.Gly57Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G57S (p.Gly57Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- ESP rs201137000
- ExAC rs201137000
- gnomAD rs201137000
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0032)
- Structural context available