Q7K (p.Gln7Lys) variant of STK11 (Q15831)
Q7K (p.Gln7Lys) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- Ensembl rs2080669968
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.80
- CADD 23.10
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available