E19E (p.Glu19Glu) variant of RB1 (P06400)
E19E (p.Glu19Glu) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- gnomAD 13-48303969-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.29
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available