K134E (p.Lys134Glu) variant of IFT172 (Q9UG01)
K134E (p.Lys134Glu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K134E (p.Lys134Glu) variant details
- p.Lys134Glu
- ExAC rs745998687
- TOPMed rs745998687
- gnomAD rs745998687
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.47
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available