K94R (p.Lys94Arg) variant of IFT172 (Q9UG01)
K94R (p.Lys94Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
K94R (p.Lys94Arg) variant details
- p.Lys94Arg
- TOPMed rs1668654872
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.13
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.96
- CADD 22.90
- PolyPhen-2 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available