L118P (p.Leu118Pro) variant of IFT172 (Q9UG01)
L118P (p.Leu118Pro) 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.
L118P (p.Leu118Pro) variant details
- p.Leu118Pro
- ExAC rs765893868
- TOPMed rs765893868
- gnomAD rs765893868
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.77
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available