G22C (p.Gly22Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G22C (p.Gly22Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in OI2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- ExAC rs72667007
- TOPMed rs72667007
- gnomAD rs72667007
- Pathogenic
- in OI2
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.22
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available