E54G (p.Glu54Gly) variant of ERBB4 (Q15303)
E54G (p.Glu54Gly) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- Ensembl rs1559544105
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.72
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available