Q89R (p.Gln89Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
Q89R (p.Gln89Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Q89R (p.Gln89Arg) variant details
- p.Gln89Arg
- TOPMed rs1171786524
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available