D77Y (p.Asp77Tyr) variant of TECRL (Q5HYJ1)
D77Y (p.Asp77Tyr) in TECRL (Q5HYJ1) 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 0.64 / 1. The record also includes structural context.
D77Y (p.Asp77Tyr) variant details
- p.Asp77Tyr
- TOPMed rs1187463858
- gnomAD rs1187463858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 0.78
- AlphaMissense 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available