Q85L (p.Gln85Leu) variant of IFT172 (Q9UG01)
Q85L (p.Gln85Leu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q85L (p.Gln85Leu) variant details
- p.Gln85Leu
- TOPMed rs1315759776
- gnomAD rs1315759776
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available