E142D (p.Glu142Asp) variant of HNRNPU (Q00839)
E142D (p.Glu142Asp) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E142D (p.Glu142Asp) variant details
- p.Glu142Asp
- Ensembl rs1680927043
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available