R7L (p.Arg7Leu) variant of RB1 (P06400)
R7L (p.Arg7Leu) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 13-48303932-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.47
- MetaLR 0.78
- MetaSVM 0.17
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available