R50K (p.Arg50Lys) variant of IFT172 (Q9UG01)
R50K (p.Arg50Lys) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R50K (p.Arg50Lys) variant details
- p.Arg50Lys
- cosmic curated COSV53133
- TOPMed rs1046047303
- gnomAD rs1046047303
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available