D5G (p.Asp5Gly) variant of STK11 (Q15831)
D5G (p.Asp5Gly) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome; Melanoma, cutan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- rs1178249537
- ClinGen CA402943017
- ClinVar RCV001041297
- ClinVar RCV002391119
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome; Melanoma, cutan
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.96
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)