Q16K (p.Gln16Lys) variant of POT1 (Q9NUX5)
Q16K (p.Gln16Lys) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- rs2485562832
- ClinGen CA369066209
- ClinVar RCV002330578
- ClinVar RCV003746618
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tumor predisposition sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)