G1041S (p.Gly1041Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G1041S (p.Gly1041Ser) 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 0.95 / 1. The record also includes published literature and structural context.
G1041S (p.Gly1041Ser) variant details
- p.Gly1041Ser
- rs2136522964
- ClinGen CA384540581
- ClinVar RCV001596880
- ClinVar RCV001806243
- Pathogenic/Likely pathogenic
- not provided; Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)
- Cited in: Stickler Syndrome. (PMID 20301479)