G21A (p.Gly21Ala) variant of STK11 (Q15831)
G21A (p.Gly21Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- rs2145404676
- ClinGen CA402943392
- ClinVar RCV003187697
- Ensembl rs2145404676
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- AlphaMissense 0.47
- MetaLR 0.52
- MetaSVM -0.43
- PolyPhen-2 0.00
- SIFT 0.27
- EVE 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)