K20E (p.Lys20Glu) variant of BBS4 (BBSome complex member BBS4)
K20E (p.Lys20Glu) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- gnomAD 15-72686562-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 8.40
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available