E15K (p.Glu15Lys) variant of BBS1 (BBSome complex member BBS1)
E15K (p.Glu15Lys) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 1; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs761601575
- ClinGen CA6123191
- NCI-TCGA Cosmic COSV5914
- cosmic curated COSV59149
- Uncertain significance
- Bardet-Biedl syndrome 1; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)