P32L (p.Pro32Leu) variant of MDM4 (Protein Mdm4)
P32L (p.Pro32Leu) in MDM4 (Protein Mdm4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs181171068
- ClinGen CA1348493
- ClinVar RCV003414703
- 1000Genomes rs181171068
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available