Y51* (p.Tyr51Ter) variant of RAD50 (DNA repair protein RAD50)
Y51* (p.Tyr51Ter) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y51* (p.Tyr51Ter) variant details
- p.Tyr51Ter
- rs2149831280
- ClinGen CA360953330
- ClinVar RCV001920542
- Ensembl rs2149831280
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)