E16K (p.Glu16Lys) variant of STK11 (Q15831)
E16K (p.Glu16Lys) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs1179004732
- ClinGen CA402943242
- ClinVar RCV001238406
- gnomAD rs1179004732
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.89
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance (in PJS)
- UniProt: Uncertain significance (in PJS)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)