L118R (p.Leu118Arg) variant of IFT172 (Q9UG01)
L118R (p.Leu118Arg) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L118R (p.Leu118Arg) variant details
- p.Leu118Arg
- ExAC rs765893868
- TOPMed rs765893868
- gnomAD rs765893868
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.78
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available