G1012S (p.Gly1012Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G1012S (p.Gly1012Ser) 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; Ehlers-Danlos syndrome, classic type, 1; Ehlers. 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.
G1012S (p.Gly1012Ser) variant details
- p.Gly1012Ser
- rs72659319
- ClinGen CA277502
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51957
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.99
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic (in OI3 and OI4)
- UniProt: Pathogenic (in OI3 and OI4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional… (PMID 8094076)