Q19Q (p.Gln19Gln) variant of BBS4 (BBSome complex member BBS4)
Q19Q (p.Gln19Gln) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q19Q (p.Gln19Gln) variant details
- p.Gln19Gln
- gnomAD 15-72695209-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0841
- CADD 0.54
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available