E14* (p.Glu14Ter) variant of STK11 (Q15831)
E14* (p.Glu14Ter) in STK11 (Q15831) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- Ensembl rs2145404557
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.83
- CADD 39.00
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available