S31Y (p.Ser31Tyr) variant of STK11 (Q15831)
S31Y (p.Ser31Tyr) 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 0.77 / 1. The record also includes published literature and structural context.
S31Y (p.Ser31Tyr) variant details
- p.Ser31Tyr
- rs2145404849
- ClinGen CA402943688
- ClinVar RCV004013331
- Ensembl rs2145404849
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- 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)