E43K (p.Glu43Lys) variant of ERBB4 (Q15303)
E43K (p.Glu43Lys) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- cosmic curated COSV10459
- TOPMed rs965744501
- gnomAD rs965744501
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available