S56* (p.Ser56Ter) variant of RAD21 (O60216)
S56* (p.Ser56Ter) in RAD21 (O60216) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
S56* (p.Ser56Ter) variant details
- p.Ser56Ter
- ExAC rs761205243
- gnomAD rs761205243
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 37.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)