C17C (p.Cys17Cys) variant of MDM4 (Protein Mdm4)
C17C (p.Cys17Cys) in MDM4 (Protein Mdm4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C17C (p.Cys17Cys) variant details
- p.Cys17Cys
- rs745325502
- gnomAD 1-204525569-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 9.51
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.13
- Literature evidence available