G40E (p.Gly40Glu) variant of POT1 (Q9NUX5)
G40E (p.Gly40Glu) 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; Hereditary cancer-predisposing syndrome; not sp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- rs2116629512
- ClinGen CA369065949
- NCI-TCGA Cosmic COSV6293
- ClinVar RCV001368211
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.70
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)