S34L (p.Ser34Leu) variant of JMJD4 (Q9H9V9)
S34L (p.Ser34Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S34L (p.Ser34Leu) variant details
- p.Ser34Leu
- 1000Genomes rs201975311
- ESP rs201975311
- ExAC rs201975311
- TOPMed rs201975311
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.00
- CADD 12.38
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available