G316S (p.Gly316Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G316S (p.Gly316Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta type I; Osteogenesis imperfecta; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G316S (p.Gly316Ser) variant details
- p.Gly316Ser
- rs72656392
- ClinGen CA368220848
- cosmic curated COSV51960
- ClinVar RCV001375860
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Osteogenesis imperfecta; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Osteogenesis imperfecta; Osteoge)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)