H27Q (p.His27Gln) variant of STK11 (Q15831)
H27Q (p.His27Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- Ensembl rs2080670824
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.54
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.09
- CADD 22.70
- PolyPhen-2 0.80
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available