E131K (p.Glu131Lys) variant of HNRNPU (Q00839)
E131K (p.Glu131Lys) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- gnomAD rs1465646444
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.13
- ESM-1b 0.71
- AlphaMissense 0.50
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available