S31A (p.Ser31Ala) variant of STK11 (Q15831)
S31A (p.Ser31Ala) 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 record also includes published literature and structural context.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- rs2512920882
- ClinGen CA402943676
- ClinVar RCV002913951
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)