G501E (p.Gly501Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G501E (p.Gly501Glu) 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 congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G501E (p.Gly501Glu) variant details
- p.Gly501Glu
- rs1455304547
- ClinGen CA384552504
- ClinVar RCV002512508
- gnomAD rs1455304547
- Likely pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic (in STL1)
- UniProt: Likely pathogenic (in STL1)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)