G1197S (p.Gly1197Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1197S (p.Gly1197Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spondyloepimetaphyseal dysplasia, Strudwick type; COL2A1-related disorder; Conne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1197S (p.Gly1197Ser) variant details
- p.Gly1197Ser
- rs121912870
- ClinGen CA250671
- ClinVar RCV000018905
- ClinVar RCV000484896
- Pathogenic/Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; COL2A1-related disorder; Conne
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type; COL2A1-related)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Structural context available
- Cited in: The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by… (PMID 8423604)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)