T2S (p.Thr2Ser) variant of MDM4 (Protein Mdm4)
T2S (p.Thr2Ser) in MDM4 (Protein Mdm4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- rs1382884218
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65798
- TOPMed rs1382884218
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.05
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.161