T12A (p.Thr12Ala) variant of MDM4 (Protein Mdm4)
T12A (p.Thr12Ala) 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.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- TOPMed rs905303517
- gnomAD rs905303517
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.07
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.373