G36R (p.Gly36Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G36R (p.Gly36Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Cardiov. 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.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs368447157
- ClinGen CA4346488
- cosmic curated COSV51953
- ClinVar RCV002241700
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Cardiov
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)