S58C (p.Ser58Cys) variant of JMJD4 (Q9H9V9)
S58C (p.Ser58Cys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S58C (p.Ser58Cys) variant details
- p.Ser58Cys
- 1000Genomes rs552801369
- gnomAD rs552801369
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.13
- MetaSVM -0.96
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available