T26N (p.Thr26Asn) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T26N (p.Thr26Asn) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs772554005
- gnomAD 12-68809288-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.33
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.315
- Literature evidence available