A29V (p.Ala29Val) variant of IFT172 (Q9UG01)
A29V (p.Ala29Val) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- TOPMed rs1161494896
- gnomAD rs1161494896
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available