K18R (p.Lys18Arg) variant of IFT172 (Q9UG01)
K18R (p.Lys18Arg) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- 1000Genomes rs146548956
- ExAC rs146548956
- gnomAD rs146548956
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available