E45A (p.Glu45Ala) variant of IFT172 (Q9UG01)
E45A (p.Glu45Ala) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E45A (p.Glu45Ala) variant details
- p.Glu45Ala
- gnomAD rs1221471858
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.49
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available