E21K (p.Glu21Lys) variant of ERBB3 (P21860)
E21K (p.Glu21Lys) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- ExAC rs778250041
- TOPMed rs778250041
- gnomAD rs778250041
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.87
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.84
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available