T44T (p.Thr44Thr) variant of RAD50 (DNA repair protein RAD50)
T44T (p.Thr44Thr) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T44T (p.Thr44Thr) variant details
- p.Thr44Thr
- rs864622315
- gnomAD 5-132559286-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 15.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available