Q7R (p.Gln7Arg) variant of STK11 (Q15831)
Q7R (p.Gln7Arg) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs2145404457
- ClinGen CA402943055
- ClinVar RCV002040911
- Ensembl rs2145404457
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- MetaLR 0.18
- MetaSVM -0.79
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)