T6A (p.Thr6Ala) variant of MDM4 (Protein Mdm4)
T6A (p.Thr6Ala) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- TOPMed rs558828094
- gnomAD rs558828094
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.09
- CADD 16.00
- 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 -0.174