E47E (p.Glu47Glu) variant of RAD50 (DNA repair protein RAD50)
E47E (p.Glu47Glu) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- rs1257141008
- gnomAD 5-132559295-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 12.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available