K24R (p.Lys24Arg) variant of BBS4 (BBSome complex member BBS4)
K24R (p.Lys24Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- ExAC rs750642149
- TOPMed rs750642149
- gnomAD rs750642149
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.25
- MetaLR 0.10
- MetaSVM -1.05
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available