Q14Q (p.Gln14Gln) variant of CDC73 (Parafibromin)
Q14Q (p.Gln14Gln) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q14Q (p.Gln14Gln) variant details
- p.Gln14Gln
- gnomAD 1-193122242-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available