G146A (p.Gly146Ala) variant of HNRNPU (Q00839)
G146A (p.Gly146Ala) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G146A (p.Gly146Ala) variant details
- p.Gly146Ala
- gnomAD rs1335894744
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.05
- CADD 15.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available