R7M (p.Arg7Met) variant of IFT172 (Q9UG01)
R7M (p.Arg7Met) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R7M (p.Arg7Met) variant details
- p.Arg7Met
- ExAC rs766303251
- TOPMed rs766303251
- gnomAD rs766303251
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.18
- CADD 29.00
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available