I33I (p.Ile33Ile) variant of RAD50 (DNA repair protein RAD50)
I33I (p.Ile33Ile) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I33I (p.Ile33Ile) variant details
- p.Ile33Ile
- gnomAD 5-132557423-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 15.60
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available