S6S (p.Ser6Ser) variant of CDC73 (Parafibromin)
S6S (p.Ser6Ser) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs564726032
- gnomAD 1-193122218-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.14
- CADD 15.80
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available