L32V (p.Leu32Val) variant of BBS4 (BBSome complex member BBS4)
L32V (p.Leu32Val) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs775255819
- gnomAD 15-72686523-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 3.43
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available