G661S (p.Gly661Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G661S (p.Gly661Ser) 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 Postmenopausal osteoporosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G661S (p.Gly661Ser) variant details
- p.Gly661Ser
- rs72658152
- ClinGen CA127127
- ClinVar RCV000018799
- Ensembl rs72658152
- Pathogenic
- Postmenopausal osteoporosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.67
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Postmenopausal osteoporosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. (PMID 1463018)
- Cited in: Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic… (PMID 2052622)