N12N (p.Asn12Asn) variant of CDC73 (Parafibromin)
N12N (p.Asn12Asn) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N12N (p.Asn12Asn) variant details
- p.Asn12Asn
- rs1238773294
- gnomAD 1-193122236-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 15.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available