S40F (p.Ser40Phe) variant of JMJD4 (Q9H9V9)
S40F (p.Ser40Phe) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- rs2527554802
- ClinGen CA345074477
- ClinVar RCV004401267
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.41
- MetaSVM -0.29
- CADD 28.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available