G64E (p.Gly64Glu) variant of POT1 (Q9NUX5)
G64E (p.Gly64Glu) 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; not provided; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- rs2485504992
- ClinGen CA369061502
- ClinVar RCV002410676
- ClinVar RCV004765505
- Uncertain significance
- Tumor predisposition syndrome 3; not provided; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.15
- CADD 17.90
- PolyPhen-2 0.15
- SIFT 1.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; not provided; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)