T12P (p.Thr12Pro) variant of MDM4 (Protein Mdm4)
T12P (p.Thr12Pro) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T12P (p.Thr12Pro) variant details
- p.Thr12Pro
- TOPMed rs905303517
- gnomAD rs905303517
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- CADD 16.50
- PolyPhen-2 0.14
- SIFT 0.15
- 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 -0.373