G83S (p.Gly83Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G83S (p.Gly83Ser) 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 Cardiovascular phenotype; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- rs763855013
- ClinGen CA8645805
- ClinVar RCV001325564
- ClinVar RCV004738251
- Conflicting interpretations
- Cardiovascular phenotype; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)