L61E (p.Leu61Glu) variant of POT1 (Q9NUX5)
L61E (p.Leu61Glu) in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L61E (p.Leu61Glu) variant details
- p.Leu61Glu
- rs1584777802
- ClinGen CA915945507
- ClinVar RCV001013207
- Ensembl rs1584777802
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)