E11* (p.Glu11Ter) variant of TECRL (Q5HYJ1)
E11* (p.Glu11Ter) in TECRL (Q5HYJ1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- gnomAD 4-64280196-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.28
- CADD 24.30
- PolyPhen-2 0.63
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available