P20H (p.Pro20His) variant of RB1 (P06400)
P20H (p.Pro20His) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P20H (p.Pro20His) variant details
- p.Pro20His
- gnomAD 13-48303971-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.33
- MetaLR 0.66
- MetaSVM 0.02
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available