T45T (p.Thr45Thr) variant of CDC73 (Parafibromin)
T45T (p.Thr45Thr) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- gnomAD 1-193125115-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 11.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available