Q76R (p.Gln76Arg) variant of HNRNPU (Q00839)
Q76R (p.Gln76Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q76R (p.Gln76Arg) variant details
- p.Gln76Arg
- TOPMed rs1680934380
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available