G338S (p.Gly338Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G338S (p.Gly338Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Infantile cortical hyperostosis; Osteogenesis imperfecta, perinata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G338S (p.Gly338Ser) variant details
- p.Gly338Ser
- rs66664580
- ClinGen CA8645430
- ClinVar RCV000534961
- ClinVar RCV001560527
- Pathogenic/Likely pathogenic
- not provided; Infantile cortical hyperostosis; Osteogenesis imperfecta, perinata
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Infantile cortical hyperostosis; Osteogenesis impe)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)