P25R (p.Pro25Arg) variant of RB1 (P06400)
P25R (p.Pro25Arg) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- Ensembl rs1593412158
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- MetaLR 0.47
- MetaSVM -0.65
- CADD 4.97
- PolyPhen-2 0.09
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available