I4I (p.Ile4Ile) variant of RAD50 (DNA repair protein RAD50)
I4I (p.Ile4Ile) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I4I (p.Ile4Ile) variant details
- p.Ile4Ile
- rs781295348
- gnomAD 5-132557336-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Literature evidence available