D42E (p.Asp42Glu) variant of POT1 (Q9NUX5)
D42E (p.Asp42Glu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long telomere syndrome; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- rs1554429221
- ClinGen CA369061740
- ClinVar RCV000528860
- ClinVar RCV002448787
- Pathogenic/Likely pathogenic
- Long telomere syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.54
- CADD 25.50
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Long telomere syndrome; Tumor predisposition syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-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)