P32R (p.Pro32Arg) variant of MDM4 (Protein Mdm4)
P32R (p.Pro32Arg) in MDM4 (Protein Mdm4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- 1000Genomes rs181171068
- ExAC rs181171068
- TOPMed rs181171068
- gnomAD rs181171068
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.14
- CADD 24.90
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available