H46R (p.His46Arg) variant of IFT172 (Q9UG01)
H46R (p.His46Arg) in IFT172 (Q9UG01) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- TOPMed rs1280850403
- gnomAD rs1280850403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.11
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available