Q23* (p.Gln23Ter) variant of RAD50 (DNA repair protein RAD50)
Q23* (p.Gln23Ter) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- gnomAD rs1332783913
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available