G18E (p.Gly18Glu) variant of ERBB4 (Q15303)
G18E (p.Gly18Glu) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- ExAC rs762676889
- TOPMed rs762676889
- gnomAD rs762676889
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available