R3S (p.Arg3Ser) variant of JMJD4 (Q9H9V9)
R3S (p.Arg3Ser) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- ExAC rs763500823
- TOPMed rs763500823
- gnomAD rs763500823
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.03
- MetaSVM -1.06
- CADD 19.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available