D43G (p.Asp43Gly) variant of HNRNPU (Q00839)
D43G (p.Asp43Gly) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- gnomAD rs1680938606
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 25.20
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.171