P3H (p.Pro3His) variant of EGFR (Epidermal growth factor receptor)
P3H (p.Pro3His) in EGFR (Epidermal growth factor receptor) 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 0.28 / 1. The record also includes population frequency data and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- ExAC rs749433287
- TOPMed rs749433287
- gnomAD rs749433287
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- MetaLR 0.41
- MetaSVM -0.63
- CADD 16.90
- PolyPhen-2 0.24
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available