P78T (p.Pro78Thr) variant of JMJD4 (Q9H9V9)
P78T (p.Pro78Thr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- ExAC rs758357951
- gnomAD rs758357951
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.14
- MetaSVM -0.96
- CADD 26.00
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available