G348C (p.Gly348Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G348C (p.Gly348Cys) 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 I, nonsyndromic ocular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G348C (p.Gly348Cys) variant details
- p.Gly348Cys
- rs2136590405
- ClinGen CA384555459
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10047
- Likely pathogenic
- not provided; Stickler syndrome, type I, nonsyndromic ocular
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided; Stickler syndrome, type I, nonsyndromic ocular)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available