G146R (p.Gly146Arg) variant of HNRNPU (Q00839)
G146R (p.Gly146Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
G146R (p.Gly146Arg) variant details
- p.Gly146Arg
- rs980758296
- ClinGen CA40505154
- ClinVar RCV003887030
- Ensembl rs980758296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- ESM-1b 0.21
- AlphaMissense 0.39
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.89
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available