G45R (p.Gly45Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
G45R (p.Gly45Arg) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.49 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD rs1234351209
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.49
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available