G44D (p.Gly44Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G44D (p.Gly44Asp) 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 0.66 / 1. The record also includes population frequency data and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- TOPMed rs936428628
- gnomAD rs936428628
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.64
- ESM-1b 0.29
- AlphaMissense 0.24
- CADD 29.30
- PolyPhen-2 0.77
- SIFT 0.04
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available