E129G (p.Glu129Gly) variant of HNRNPU (Q00839)
E129G (p.Glu129Gly) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E129G (p.Glu129Gly) variant details
- p.Glu129Gly
- rs1435707336
- ClinGen CA345497240
- ClinVar RCV002508372
- ClinVar RCV006262489
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available