E75K (p.Glu75Lys) variant of HNRNPU (Q00839)
E75K (p.Glu75Lys) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. 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.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- rs773969888
- ExAC rs773969888
- TOPMed rs773969888
- gnomAD rs773969888
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.28
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available