P25Q (p.Pro25Gln) variant of RB1 (P06400)
P25Q (p.Pro25Gln) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 13-48303986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- MetaLR 0.50
- MetaSVM -0.61
- CADD 4.99
- PolyPhen-2 0.11
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available