D117G (p.Asp117Gly) variant of HNRNPU (Q00839)
D117G (p.Asp117Gly) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D117G (p.Asp117Gly) variant details
- p.Asp117Gly
- ExAC rs755321884
- gnomAD rs755321884
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available