G163R (p.Gly163Arg) variant of STK11 (Q15831)
G163R (p.Gly163Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghers syndrome; Fam. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G163R (p.Gly163Arg) variant details
- p.Gly163Arg
- rs730881972
- ClinGen CA023047
- NCI-TCGA Cosmic COSV5882
- Likely pathogenic
- Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghers syndrome; Fam
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghe)
- EBI: Likely pathogenic (in TGCT)
- UniProt: Likely pathogenic (in TGCT)
- 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)