G501W (p.Gly501Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
G501W (p.Gly501Trp) 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 Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G501W (p.Gly501Trp) variant details
- p.Gly501Trp
- Ensembl rs866502805
- Pathogenic
- Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Type 2 collagenopathy)
- EBI: Pathogenic (in STL1)
- UniProt: Pathogenic (in STL1)
- Population evidence available
- Structural context available