W8C (p.Trp8Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
W8C (p.Trp8Cys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- rs1674862237
- ClinGen CA341159879
- ClinVar RCV004543924
- TOPMed rs1674862237
- Uncertain significance
- COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- ESM-1b 0.00
- AlphaMissense 0.78
- MetaLR 0.23
- MetaSVM -0.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (COL11A1-related disorder)
- EBI: Variant of uncertain significance (in dbSNP:rs12025888)
- UniProt: Uncertain significance (in dbSNP:rs12025888)
- Population evidence available
- Structural context available