A8T (p.Ala8Thr) variant of MDM4 (Protein Mdm4)
A8T (p.Ala8Thr) in MDM4 (Protein Mdm4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs115828402
- ClinGen CA1348462
- ClinVar RCV000881022
- 1000Genomes rs115828402
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.858