S58A (p.Ser58Ala) variant of JMJD4 (Q9H9V9)
S58A (p.Ser58Ala) 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.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- gnomAD rs1203676858
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- ESM-1b 0.11
- AlphaMissense 0.17
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available