S104W (p.Ser104Trp) variant of JMJD4 (Q9H9V9)
S104W (p.Ser104Trp) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S104W (p.Ser104Trp) variant details
- p.Ser104Trp
- gnomAD rs1367496567
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.16
- MetaSVM -0.80
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available