S34W (p.Ser34Trp) variant of JMJD4 (Q9H9V9)
S34W (p.Ser34Trp) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S34W (p.Ser34Trp) variant details
- p.Ser34Trp
- cosmic curated COSV59917
- 1000Genomes rs201975311
- ESP rs201975311
- ExAC rs201975311
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.04
- MetaSVM -1.06
- CADD 19.51
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available