P2Q (p.Pro2Gln) variant of RB1 (P06400)
P2Q (p.Pro2Gln) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- gnomAD 13-48303917-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.57
- MetaLR 0.81
- MetaSVM 0.64
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available