F58L (p.Phe58Leu) variant of BBS2 (BBSome complex member BBS2)
F58L (p.Phe58Leu) in BBS2 (BBSome complex member BBS2) 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.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- TOPMed rs1483812430
- gnomAD rs1483812430
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.24
- CADD 16.50
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available