T7K (p.Thr7Lys) variant of POT1 (Q9NUX5)
T7K (p.Thr7Lys) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tumor predisposition syndrome 3; not specified; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- rs2485562982
- ClinGen CA369066306
- ClinVar RCV002424186
- ClinVar RCV003493952
- Conflicting interpretations
- Tumor predisposition syndrome 3; not specified; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; not specified; Hereditary cance)
- EBI: Likely benign
- UniProt: Likely benign
- 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)