P27A (p.Pro27Ala) variant of JMJD4 (Q9H9V9)
P27A (p.Pro27Ala) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- TOPMed rs1330874434
- gnomAD rs1330874434
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.03
- CADD 12.85
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available