E16D (p.Glu16Asp) variant of STK11 (Q15831)
E16D (p.Glu16Asp) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- TOPMed rs969419908
- gnomAD rs969419908
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in PJS)
- UniProt: Likely benign (in PJS)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available