A42T (p.Ala42Thr) variant of JMJD4 (Q9H9V9)
A42T (p.Ala42Thr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- TOPMed rs1660999229
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -0.96
- CADD 18.24
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available