S66C (p.Ser66Cys) variant of IFT172 (Q9UG01)
S66C (p.Ser66Cys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S66C (p.Ser66Cys) variant details
- p.Ser66Cys
- ExAC rs777925178
- gnomAD rs777925178
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.41
- CADD 27.20
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the South Asian population (allele frequency 9.4e-05)
- Structural context available