E43Q (p.Glu43Gln) variant of ERBB4 (Q15303)
E43Q (p.Glu43Gln) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- cosmic curated COSV10941
- TOPMed rs965744501
- gnomAD rs965744501
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available