L62P (p.Leu62Pro) variant of HNRNPU (Q00839)
L62P (p.Leu62Pro) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- ExAC rs750566995
- gnomAD rs750566995
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available