D43V (p.Asp43Val) variant of HNRNPU (Q00839)
D43V (p.Asp43Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- gnomAD rs1680938606
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.171