S31S (p.Ser31Ser) variant of CDC73 (Parafibromin)
S31S (p.Ser31Ser) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S31S (p.Ser31Ser) variant details
- p.Ser31Ser
- rs550111539
- gnomAD 1-193122293-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 15.60
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available