Q23L (p.Gln23Leu) variant of MDM4 (Protein Mdm4)
Q23L (p.Gln23Leu) in MDM4 (Protein Mdm4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- ESP rs369657471
- ExAC rs369657471
- TOPMed rs369657471
- gnomAD rs369657471
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- 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 0.0188