E54K (p.Glu54Lys) variant of ERBB3 (P21860)
E54K (p.Glu54Lys) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- ExAC rs757941835
- TOPMed rs757941835
- gnomAD rs757941835
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- MetaLR 0.29
- MetaSVM -0.79
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available