E122G (p.Glu122Gly) variant of HNRNPU (Q00839)
E122G (p.Glu122Gly) in HNRNPU (Q00839) 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.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- TOPMed rs1259140963
- gnomAD rs1259140963
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available