Q85R (p.Gln85Arg) variant of IFT172 (Q9UG01)
Q85R (p.Gln85Arg) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q85R (p.Gln85Arg) variant details
- p.Gln85Arg
- TOPMed rs1315759776
- gnomAD rs1315759776
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available