E77K (p.Glu77Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E77K (p.Glu77Lys) 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; Infantile cortical hyperostosis; Ehlers-Danlos s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs753683126
- ClinGen CA8645806
- ClinVar RCV000278484
- ClinVar RCV000323135
- Conflicting interpretations
- Osteogenesis imperfecta type I; Infantile cortical hyperostosis; Ehlers-Danlos s
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Osteogenesis imperfecta type I; Infantile cortical hyperostosis;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)