K20Q (p.Lys20Gln) variant of BBS4 (BBSome complex member BBS4)
K20Q (p.Lys20Gln) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K20Q (p.Lys20Gln) variant details
- p.Lys20Gln
- gnomAD 15-72695210-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -1.05
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available