A8P (p.Ala8Pro) variant of MDM4 (Protein Mdm4)
A8P (p.Ala8Pro) in MDM4 (Protein Mdm4) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- 1000Genomes rs115828402
- ESP rs115828402
- ExAC rs115828402
- TOPMed rs115828402
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- CADD 25.40
- PolyPhen-2 0.48
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.858