T73A (p.Thr73Ala) variant of JMJD4 (Q9H9V9)
T73A (p.Thr73Ala) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- Ensembl rs1660988267
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.26
- CADD 24.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available