P21R (p.Pro21Arg) variant of MDM4 (Protein Mdm4)
P21R (p.Pro21Arg) in MDM4 (Protein Mdm4) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs2102314425
- ClinGen CA344360310
- ClinVar RCV004421476
- Ensembl rs2102314425
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.285