E140K (p.Glu140Lys) variant of HNRNPU (Q00839)
E140K (p.Glu140Lys) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E140K (p.Glu140Lys) variant details
- p.Glu140Lys
- rs1680927279
- ClinGen CA345497163
- ClinVar RCV001091232
- Ensembl rs1680927279
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available