G40* (p.Gly40Ter) variant of POT1 (Q9NUX5)
G40* (p.Gly40Ter) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G40* (p.Gly40Ter) variant details
- p.Gly40Ter
- rs1796390355
- ClinGen CA369065951
- NCI-TCGA Cosmic COSV6293
- ClinVar RCV001993372
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)