G10C (p.Gly10Cys) variant of STK11 (Q15831)
G10C (p.Gly10Cys) in STK11 (Q15831) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- Ensembl rs2145404498
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.19
- CADD 12.60
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available