L145F (p.Leu145Phe) variant of HNRNPU (Q00839)
L145F (p.Leu145Phe) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L145F (p.Leu145Phe) variant details
- p.Leu145Phe
- ExAC rs748710323
- gnomAD rs748710323
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available