K20K (p.Lys20Lys) variant of BBS4 (BBSome complex member BBS4)
K20K (p.Lys20Lys) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K20K (p.Lys20Lys) variant details
- p.Lys20Lys
- rs1567398780
- gnomAD 15-72695212-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 4.89
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available