E24G (p.Glu24Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
E24G (p.Glu24Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Osteogenesis imperfecta type I; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- rs201920416
- ClinGen CA8645882
- ClinVar RCV002370833
- ClinVar RCV003098498
- Conflicting interpretations
- Osteogenesis imperfecta type I; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Osteogenesis imperfecta type I; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)