G26S (p.Gly26Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G26S (p.Gly26Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs2144600278
- ClinGen CA400230216
- ClinVar RCV001909334
- ClinVar RCV004996095
- Uncertain significance
- Cardiovascular phenotype; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.74
- ClinVar: Uncertain significance (Cardiovascular phenotype; Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)