E2* (p.Glu2Ter) variant of STK11 (Q15831)
E2* (p.Glu2Ter) 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 0.62 / 1. The record also includes population frequency data and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- cosmic curated COSV10962
- Ensembl rs1599914695
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -0.92
- CADD 38.00
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available