G22S (p.Gly22Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G22S (p.Gly22Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- ExAC rs72667007
- TOPMed rs72667007
- gnomAD rs72667007
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.10
- PolyPhen-2 0.29
- SIFT 0.37
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available