A16P (p.Ala16Pro) variant of IFT172 (Q9UG01)
A16P (p.Ala16Pro) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- TOPMed rs1446973289
- gnomAD rs1446973289
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available