D76E (p.Asp76Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D76E (p.Asp76Glu) 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 not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D76E (p.Asp76Glu) variant details
- p.Asp76Glu
- rs1314366641
- ClinGen CA400228231
- ClinVar RCV000535747
- TOPMed rs1314366641
- Uncertain significance
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.03
- ClinVar: Uncertain significance (not provided; Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)