A38T (p.Ala38Thr) variant of JMJD4 (Q9H9V9)
A38T (p.Ala38Thr) in JMJD4 (Q9H9V9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ExAC rs763102204
- TOPMed rs763102204
- gnomAD rs763102204
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0923
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.95
- CADD 7.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.013)
- Structural context available