F6L (p.Phe6Leu) variant of BBS2 (BBSome complex member BBS2)
F6L (p.Phe6Leu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F6L (p.Phe6Leu) variant details
- p.Phe6Leu
- TOPMed rs1376607344
- gnomAD rs1376607344
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available