G753S (p.Gly753Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G753S (p.Gly753Ser) 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 not provided; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G753S (p.Gly753Ser) variant details
- p.Gly753Ser
- rs2136549071
- ClinGen CA384546055
- ClinVar RCV001780548
- NCI-TCGA TCGA novel
- Likely pathogenic
- not provided; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available