K565R (p.Lys565Arg) variant of BBS1 (BBSome complex member BBS1)
K565R (p.Lys565Arg) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K565R (p.Lys565Arg) variant details
- p.Lys565Arg
- rs1565291081
- ClinGen CA381426274
- ClinVar RCV000735919
- Ensembl rs1565291081
- Pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.29
- CADD 28.20
- PolyPhen-2 0.03
- ClinVar: Pathogenic (Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)