Q52* (p.Gln52Ter) variant of POT1 (Q9NUX5)
Q52* (p.Gln52Ter) in POT1 (Q9NUX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- rs1416551470
- ClinGen CA369061638
- ClinVar RCV003746433
- ClinVar RCV005468044
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)