T6P (p.Thr6Pro) variant of MDM4 (Protein Mdm4)
T6P (p.Thr6Pro) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T6P (p.Thr6Pro) variant details
- p.Thr6Pro
- gnomAD 1-204525534-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.13
- CADD 23.10
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.174
- Literature evidence available