T32A (p.Thr32Ala) variant of STK11 (Q15831)
T32A (p.Thr32Ala) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Ger. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T32A (p.Thr32Ala) variant details
- p.Thr32Ala
- rs755210880
- ClinGen CA049791
- ClinVar RCV000229700
- ClinVar RCV000479327
- Conflicting interpretations
- Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Ger
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.25
- MetaLR 0.45
- MetaSVM -0.68
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptib)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)