K59R (p.Lys59Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
K59R (p.Lys59Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K59R (p.Lys59Arg) variant details
- p.Lys59Arg
- TOPMed rs1254737250
- gnomAD rs1254737250
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available