D16Y (p.Asp16Tyr) variant of COL11A1 (Collagen alpha-1(XI) chain)
D16Y (p.Asp16Tyr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- TOPMed rs1674859557
- gnomAD rs1674859557
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available