D61N (p.Asp61Asn) variant of HNRNPU (Q00839)
D61N (p.Asp61Asn) 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 0.26 / 1. The record also includes population frequency data and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- ExAC rs758647161
- TOPMed rs758647161
- gnomAD rs758647161
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.24
- 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 1.5e-05)
- Structural context available