E3E (p.Glu3Glu) variant of BBS4 (BBSome complex member BBS4)
E3E (p.Glu3Glu) 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.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- rs1313222448
- gnomAD 15-72686236-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 6.32
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available