G1158R (p.Gly1158Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1158R (p.Gly1158Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondrogenesis type II; Disproportionate short-limb short stature; Narrow chest. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1158R (p.Gly1158Arg) variant details
- p.Gly1158Arg
- rs1057518911
- ClinGen CA16043470
- ClinVar RCV000415337
- ClinVar RCV001196300
- Likely pathogenic
- Achondrogenesis type II; Disproportionate short-limb short stature; Narrow chest
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Achondrogenesis type II; Disproportionate short-limb short statu)
- EBI: Likely pathogenic (in STL1)
- UniProt: Likely pathogenic (in STL1)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)