Q139L (p.Gln139Leu) variant of HNRNPU (Q00839)
Q139L (p.Gln139Leu) in HNRNPU (Q00839) is a missense change. 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.
Q139L (p.Gln139Leu) variant details
- p.Gln139Leu
- ExAC rs749416136
- gnomAD rs749416136
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available