N5T (p.Asn5Thr) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
N5T (p.Asn5Thr) in MDM2 (E3 ubiquitin-protein ligase Mdm2) 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, published literature, and structural context.
N5T (p.Asn5Thr) variant details
- p.Asn5Thr
- gnomAD 12-68809225-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.167
- Literature evidence available