V27V (p.Val27Val) variant of MDM4 (Protein Mdm4)
V27V (p.Val27Val) in MDM4 (Protein Mdm4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V27V (p.Val27Val) variant details
- p.Val27Val
- rs776948959
- gnomAD 1-204526362-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 15.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.249
- Literature evidence available