E93K (p.Glu93Lys) variant of HNRNPU (Q00839)
E93K (p.Glu93Lys) in HNRNPU (Q00839) is a missense change. 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.
E93K (p.Glu93Lys) variant details
- p.Glu93Lys
- cosmic curated COSV10500
- TOPMed rs1680931978
- gnomAD rs1680931978
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 22.90
- PolyPhen-2 0.68
- SIFT 0.86
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available