G1188A (p.Gly1188Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G1188A (p.Gly1188Ala) 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 Spondyloepiphyseal dysplasia, Stanescu type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G1188A (p.Gly1188Ala) variant details
- p.Gly1188Ala
- rs1592197682
- ClinGen CA384537311
- ClinVar RCV001029739
- Ensembl rs1592197682
- Likely pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia, Stanescu type)
- EBI: Likely pathogenic (in ACG2)
- UniProt: Likely pathogenic (in ACG2)
- Structural context available