E61K (p.Glu61Lys) variant of BBS4 (BBSome complex member BBS4)
E61K (p.Glu61Lys) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1251827333
- ClinGen CA393076066
- ClinVar RCV001494740
- UniProt VAR 066287
- Likely benign
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.71
- CADD 24.50
- PolyPhen-2 0.10
- SIFT 0.36
- ClinVar: Likely benign (Bardet-Biedl syndrome)
- EBI: Likely benign (found in patients with Bardet-Biedl syndrome carrying mutations)
- UniProt: Likely benign (found in patients with Bardet-Biedl syndrome carrying mutations)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)