C34W (p.Cys34Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
C34W (p.Cys34Trp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C34W (p.Cys34Trp) variant details
- p.Cys34Trp
- rs2136637552
- ClinGen CA384526772
- ClinVar RCV001995990
- Ensembl rs2136637552
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available