P121Q (p.Pro121Gln) variant of IFT172 (Q9UG01)
P121Q (p.Pro121Gln) 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 0.64 / 1. The record also includes population frequency data and structural context.
P121Q (p.Pro121Gln) variant details
- p.Pro121Gln
- ExAC rs765202929
- TOPMed rs765202929
- gnomAD rs765202929
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.56
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available