K94E (p.Lys94Glu) variant of IFT172 (Q9UG01)
K94E (p.Lys94Glu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K94E (p.Lys94Glu) variant details
- p.Lys94Glu
- TOPMed rs1668655061
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.34
- CADD 26.70
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available