E4E (p.Glu4Glu) variant of BBS4 (BBSome complex member BBS4)
E4E (p.Glu4Glu) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs543735239
- gnomAD 15-72686239-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 6.52
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)