A8A (p.Ala8Ala) variant of MDM4 (Protein Mdm4)
A8A (p.Ala8Ala) in MDM4 (Protein Mdm4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs2102313810
- gnomAD 1-204525542-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 12.50
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.858
- Literature evidence available