G601S (p.Gly601Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G601S (p.Gly601Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge. 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.
G601S (p.Gly601Ser) variant details
- p.Gly601Ser
- rs72658143
- ClinGen CA162929069
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51952
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.98
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)