Q8* (p.Gln8Ter) variant of STK11 (Q15831)
Q8* (p.Gln8Ter) in STK11 (Q15831) 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 0.48 / 1. The record also includes population frequency data and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- ExAC rs760588289
- gnomAD rs760588289
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available