F128L (p.Phe128Leu) variant of IFT172 (Q9UG01)
F128L (p.Phe128Leu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
F128L (p.Phe128Leu) variant details
- p.Phe128Leu
- gnomAD rs1252918577
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available