T10A (p.Thr10Ala) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T10A (p.Thr10Ala) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Accelerated tumor formation, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs1450828029
- ClinGen CA385702907
- NCI-TCGA Cosmic COSV9925
- cosmic curated COSV99254
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.11
- CADD 24.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.0373