I52F (p.Ile52Phe) variant of RAD50 (DNA repair protein RAD50)
I52F (p.Ile52Phe) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- rs876659837
- gnomAD 5-132559307-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available