E21R (p.Glu21Arg) variant of ERBB3 (P21860)
E21R (p.Glu21Arg) in ERBB3 (P21860) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E21R (p.Glu21Arg) variant details
- p.Glu21Arg
- rs768059072
- gnomAD 12-56080358-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 31.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available