G100D (p.Gly100Asp) variant of IFT172 (Q9UG01)
G100D (p.Gly100Asp) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G100D (p.Gly100Asp) variant details
- p.Gly100Asp
- ExAC rs77414825
- gnomAD rs77414825
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.62
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available