D100E (p.Asp100Glu) variant of HNRNPU (Q00839)
D100E (p.Asp100Glu) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- TOPMed rs1308031438
- gnomAD rs1308031438
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available