P6R (p.Pro6Arg) variant of STK11 (Q15831)
P6R (p.Pro6Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs775346785
- ClinGen CA046464
- ClinVar RCV000802367
- ClinVar RCV001013222
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.98
- CADD 24.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)