L32F (p.Leu32Phe) variant of BBS4 (BBSome complex member BBS4)
L32F (p.Leu32Phe) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- rs775255819
- gnomAD 15-72686523-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 3.93
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available