Q19* (p.Gln19Ter) variant of TECRL (Q5HYJ1)
Q19* (p.Gln19Ter) in TECRL (Q5HYJ1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs778546497
- ClinGen CA2935707
- ClinVar RCV002471417
- ExAC rs778546497
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 32.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)