A38S (p.Ala38Ser) variant of JMJD4 (Q9H9V9)
A38S (p.Ala38Ser) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- ExAC rs763102204
- TOPMed rs763102204
- gnomAD rs763102204
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.68
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available