A84G (p.Ala84Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
A84G (p.Ala84Gly) 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 Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A84G (p.Ala84Gly) variant details
- p.Ala84Gly
- rs775095655
- ClinGen CA8645804
- ClinVar RCV000631478
- ClinVar RCV001128044
- Conflicting interpretations
- Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- ESM-1b 0.99
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Infantile cortical hyperostosis; Osteogenesis imperfecta type I;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)