Q111E (p.Gln111Glu) variant of IFT172 (Q9UG01)
Q111E (p.Gln111Glu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q111E (p.Gln111Glu) variant details
- p.Gln111Glu
- ExAC rs781453446
- gnomAD rs781453446
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.37
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available