K4I (p.Lys4Ile) variant of RB1 (P06400)
K4I (p.Lys4Ile) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K4I (p.Lys4Ile) variant details
- p.Lys4Ile
- TOPMed rs1371181708
- gnomAD rs1371181708
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available