S42* (p.Ser42Ter) variant of TECRL (Q5HYJ1)
S42* (p.Ser42Ter) in TECRL (Q5HYJ1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S42* (p.Ser42Ter) variant details
- p.Ser42Ter
- ExAC rs773204861
- gnomAD rs773204861
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available