Q19H (p.Gln19His) variant of TECRL (Q5HYJ1)
Q19H (p.Gln19His) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- ExAC rs754554418
- TOPMed rs754554418
- gnomAD rs754554418
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.77
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available