D44Y (p.Asp44Tyr) variant of HNRNPU (Q00839)
D44Y (p.Asp44Tyr) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- Ensembl rs1680938510
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.40
- CADD 24.70
- PolyPhen-2 0.51
- SIFT 0.01
- Population evidence available
- Structural context available
- HNRNPU SAP domain domainome 1.0: score 0.0446