G20C (p.Gly20Cys) variant of POT1 (Q9NUX5)
G20C (p.Gly20Cys) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs1796391890
- ClinGen CA369066158
- ClinVar RCV001870237
- ClinVar RCV003164076
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.45
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)