P2L (p.Pro2Leu) variant of RB1 (P06400)
P2L (p.Pro2Leu) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- Ensembl rs2138026976
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.61
- MetaLR 0.77
- MetaSVM 0.53
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available