L259S (p.Leu259Ser) variant of POT1 (Q9NUX5)
L259S (p.Leu259Ser) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8. The record also includes published literature and structural context.
L259S (p.Leu259Ser) variant details
- p.Leu259Ser
- rs2485441799
- ClinGen CA369055512
- ClinVar RCV003227580
- UniProt VAR 088596
- Pathogenic
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
- Missense
- ClinVar: Pathogenic (Pulmonary fibrosis and/or bone marrow failure syndrome, telomere)
- EBI: Pathogenic (in PFBMFT8)
- UniProt: Pathogenic (in PFBMFT8)
- Structural context available
- Cited in: Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis. (PMID 35420632)