T32N (p.Thr32Asn) variant of RAD50 (DNA repair protein RAD50)
T32N (p.Thr32Asn) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- rs587781625
- gnomAD 5-132557417-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 32.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available