E57K (p.Glu57Lys) variant of BBS4 (BBSome complex member BBS4)
E57K (p.Glu57Lys) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- ExAC rs758321666
- TOPMed rs758321666
- gnomAD rs758321666
- Uncertain significance
- Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.81
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available