K34K (p.Lys34Lys) variant of CDC73 (Parafibromin)
K34K (p.Lys34Lys) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K34K (p.Lys34Lys) variant details
- p.Lys34Lys
- rs570083294
- gnomAD 1-193122302-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 16.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available