Y43C (p.Tyr43Cys) variant of IFT172 (Q9UG01)
Y43C (p.Tyr43Cys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- TOPMed rs1473980860
- gnomAD rs1473980860
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.57
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available