I125L (p.Ile125Leu) variant of IFT172 (Q9UG01)
I125L (p.Ile125Leu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I125L (p.Ile125Leu) variant details
- p.Ile125Leu
- ExAC rs776509019
- gnomAD rs776509019
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.03
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available