G1146S (p.Gly1146Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1146S (p.Gly1146Ser) 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 not provided; Spondyloepiphyseal dysplasia congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G1146S (p.Gly1146Ser) variant details
- p.Gly1146Ser
- rs2136516927
- ClinGen CA384537579
- ClinVar RCV001378815
- ClinVar RCV005864564
- Pathogenic/Likely pathogenic
- not provided; Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.73
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)