F12L (p.Phe12Leu) variant of BBS4 (BBSome complex member BBS4)
F12L (p.Phe12Leu) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- rs1454701575
- gnomAD 15-72686541-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.57
- SIFT 0.90
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available