K56R (p.Lys56Arg) variant of IFT172 (Q9UG01)
K56R (p.Lys56Arg) in IFT172 (Q9UG01) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- ExAC rs780205001
- gnomAD rs780205001
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.27
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available