P1459S (p.Pro1459Ser) variant of ALMS1 (Q8TCU4)
P1459S (p.Pro1459Ser) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome. The record also includes published literature.
P1459S (p.Pro1459Ser) variant details
- p.Pro1459Ser
- rs2466101466
- ClinGen CA347278412
- ClinVar RCV003222509
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)