P28H (p.Pro28His) variant of RB1 (P06400)
P28H (p.Pro28His) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- 1000Genomes rs776175164
- ExAC rs776175164
- TOPMed rs776175164
- gnomAD rs776175164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.37
- MetaLR 0.49
- MetaSVM 0.22
- CADD 16.10
- PolyPhen-2 0.25
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available