D2A (p.Asp2Ala) variant of JMJD4 (Q9H9V9)
D2A (p.Asp2Ala) 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.
D2A (p.Asp2Ala) variant details
- p.Asp2Ala
- gnomAD rs1399905802
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.11
- MetaSVM -0.95
- CADD 25.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available