I148T (p.Ile148Thr) variant of IFT172 (Q9UG01)
I148T (p.Ile148Thr) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I148T (p.Ile148Thr) variant details
- p.Ile148Thr
- Ensembl rs371617289
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.37
- CADD 23.90
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available