L59F (p.Leu59Phe) variant of BBS4 (BBSome complex member BBS4)
L59F (p.Leu59Phe) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L59F (p.Leu59Phe) variant details
- p.Leu59Phe
- gnomAD rs1399403313
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.27
- MetaLR 0.40
- MetaSVM -0.15
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available