I126V (p.Ile126Val) variant of IFT172 (Q9UG01)
I126V (p.Ile126Val) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I126V (p.Ile126Val) variant details
- p.Ile126Val
- gnomAD rs1370329911
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available