G480R (p.Gly480Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G480R (p.Gly480Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G480R (p.Gly480Arg) variant details
- p.Gly480Arg
- Ensembl rs2136571464
- Likely pathogenic
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Stickler syndrome type 1)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available