Y93C (p.Tyr93Cys) variant of IFT172 (Q9UG01)
Y93C (p.Tyr93Cys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y93C (p.Tyr93Cys) variant details
- p.Tyr93Cys
- ExAC rs774211857
- gnomAD rs774211857
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.71
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available