R7P (p.Arg7Pro) variant of RB1 (P06400)
R7P (p.Arg7Pro) in RB1 (P06400) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs1131690852
- gnomAD 13-48303925-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available