R37G (p.Arg37Gly) variant of HNRNPU (Q00839)
R37G (p.Arg37Gly) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- ExAC rs765869965
- gnomAD rs765869965
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.595