I45I (p.Ile45Ile) variant of RAD50 (DNA repair protein RAD50)
I45I (p.Ile45Ile) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- rs745566783
- gnomAD 5-132559289-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 13.70
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available