R38P (p.Arg38Pro) variant of IFT172 (Q9UG01)
R38P (p.Arg38Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- 1000Genomes rs552861632
- ExAC rs552861632
- TOPMed rs552861632
- gnomAD rs552861632
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.64
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available