A23T (p.Ala23Thr) variant of IFT172 (Q9UG01)
A23T (p.Ala23Thr) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD rs1668692129
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.37
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available