P6T (p.Pro6Thr) variant of STK11 (Q15831)
P6T (p.Pro6Thr) 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 0.31 / 1. The record also includes published literature and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs1360284524
- ClinGen CA402943031
- ClinVar RCV000807083
- gnomAD rs1360284524
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.23
- 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)