V6V (p.Val6Val) variant of BBS4 (BBSome complex member BBS4)
V6V (p.Val6Val) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V6V (p.Val6Val) variant details
- p.Val6Val
- rs113994187
- gnomAD 15-72686245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.82
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. (PMID 12016587)