P6S (p.Pro6Ser) variant of STK11 (Q15831)
P6S (p.Pro6Ser) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs1360284524
- ClinGen CA402943037
- ClinVar RCV001898858
- ClinVar RCV002407038
- Conflicting interpretations
- not specified; Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.05
- CADD 21.50
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Peutz-Jeghers syndrome; Hereditary cancer-predisp)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)