Q8K (p.Gln8Lys) variant of STK11 (Q15831)
Q8K (p.Gln8Lys) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- rs760588289
- ClinGen CA402943072
- ClinVar RCV002833003
- ExAC rs760588289
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -1.01
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)