G21S (p.Gly21Ser) variant of STK11 (Q15831)
G21S (p.Gly21Ser) 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; Germ cell tumor of testis; Peutz-Jegher. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs1064793751
- ClinGen CA089436
- ClinVar RCV000485517
- ClinVar RCV000776368
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Germ cell tumor of testis; Peutz-Jegher
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- AlphaMissense 0.47
- MetaLR 0.52
- MetaSVM -0.43
- CADD 24.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Germ cell tumor of test)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)