G49D (p.Gly49Asp) variant of HNRNPU (Q00839)
G49D (p.Gly49Asp) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- ExAC rs199973300
- TOPMed rs199973300
- gnomAD rs199973300
- Likely benign
- not specified; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 20.90
- PolyPhen-2 0.10
- SIFT 0.60
- ClinVar: Likely benign (not specified; Developmental and epileptic encephalopathy, 54)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00075)
- Structural context available