P27H (p.Pro27His) variant of RB1 (P06400)
P27H (p.Pro27His) 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 0.34 / 1. The record also includes population frequency data and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- TOPMed rs925399787
- gnomAD rs925399787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.35
- MetaLR 0.50
- MetaSVM -0.26
- CADD 18.00
- PolyPhen-2 0.25
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available