T6S (p.Thr6Ser) variant of MDM4 (Protein Mdm4)
T6S (p.Thr6Ser) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- Ensembl rs2102313713
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.174