G393S (p.Gly393Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G393S (p.Gly393Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stickler syndrome type 1; Spondyloepiphyseal dysplasia congenita; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G393S (p.Gly393Ser) variant details
- p.Gly393Ser
- rs1025202963
- ClinGen CA236528118
- cosmic curated COSV10649
- ClinVar RCV000659391
- Pathogenic
- Stickler syndrome type 1; Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Stickler syndrome type 1; Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)