R64K (p.Arg64Lys) variant of IFT172 (Q9UG01)
R64K (p.Arg64Lys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R64K (p.Arg64Lys) variant details
- p.Arg64Lys
- gnomAD rs1214968975
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.08
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available