Y149C (p.Tyr149Cys) variant of IFT172 (Q9UG01)
Y149C (p.Tyr149Cys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y149C (p.Tyr149Cys) variant details
- p.Tyr149Cys
- TOPMed rs1161989952
- gnomAD rs1161989952
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.59
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available