T69R (p.Thr69Arg) variant of TECRL (Q5HYJ1)
T69R (p.Thr69Arg) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
T69R (p.Thr69Arg) variant details
- p.Thr69Arg
- TOPMed rs1724927093
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- ESM-1b 0.64
- AlphaMissense 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available