D5N (p.Asp5Asn) variant of STK11 (Q15831)
D5N (p.Asp5Asn) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs1399081375
- ClinGen CA402943001
- ClinVar RCV002389244
- ClinVar RCV003095092
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.77
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)