E123D (p.Glu123Asp) variant of HNRNPU (Q00839)
E123D (p.Glu123Asp) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E123D (p.Glu123Asp) variant details
- p.Glu123Asp
- ExAC rs762536063
- gnomAD rs762536063
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available