D72G (p.Asp72Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
D72G (p.Asp72Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D72G (p.Asp72Gly) variant details
- p.Asp72Gly
- gnomAD rs1285530026
- Likely benign
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Likely benign (Osteogenesis imperfecta type I)
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available