G891R (p.Gly891Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G891R (p.Gly891Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G891R (p.Gly891Arg) variant details
- p.Gly891Arg
- rs121912879
- ClinGen CA250699
- ClinVar RCV000022480
- UniProt VAR 001752
- Pathogenic
- Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Achondrogenesis type II)
- EBI: Pathogenic (in ACG2 and SEDC)
- UniProt: Pathogenic (in ACG2 and SEDC)
- Structural context available
- Cited in: A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from… (PMID 7757081)
- Cited in: Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1… (PMID 7757086)