I17R (p.Ile17Arg) variant of RAD50 (DNA repair protein RAD50)
I17R (p.Ile17Arg) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I17R (p.Ile17Arg) variant details
- p.Ile17Arg
- gnomAD 5-132557372-AAT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available