E131Q (p.Glu131Gln) variant of HNRNPU (Q00839)
E131Q (p.Glu131Gln) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E131Q (p.Glu131Gln) variant details
- p.Glu131Gln
- gnomAD rs1465646444
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available