D44N (p.Asp44Asn) variant of HNRNPU (Q00839)
D44N (p.Asp44Asn) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- Ensembl rs1680938510
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score 0.0446