A17T (p.Ala17Thr) variant of IFT172 (Q9UG01)
A17T (p.Ala17Thr) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- Ensembl rs1668693534
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.41
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available