D2V (p.Asp2Val) variant of JMJD4 (Q9H9V9)
D2V (p.Asp2Val) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- gnomAD rs1399905802
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.66
- MetaLR 0.11
- MetaSVM -1.04
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available