E43D (p.Glu43Asp) variant of ERBB4 (Q15303)
E43D (p.Glu43Asp) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- Ensembl rs2125571373
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.17
- CADD 9.93
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available