G22S (p.Gly22Ser) variant of JMJD4 (Q9H9V9)
G22S (p.Gly22Ser) in JMJD4 (Q9H9V9) is a missense change. 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.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- cosmic curated COSV10646
- ExAC rs768777109
- TOPMed rs768777109
- Missense
- Variant Prioritization Score for Impact Estimate 0.0774
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.97
- CADD 4.48
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available