A31S (p.Ala31Ser) variant of JMJD4 (Q9H9V9)
A31S (p.Ala31Ser) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- 1000Genomes rs368383751
- ESP rs368383751
- ExAC rs368383751
- TOPMed rs368383751
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.02
- CADD 18.54
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available