K20R (p.Lys20Arg) variant of BBS4 (BBSome complex member BBS4)
K20R (p.Lys20Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K20R (p.Lys20Arg) variant details
- p.Lys20Arg
- gnomAD 15-72695211-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -1.06
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available