P5L (p.Pro5Leu) variant of HNRNPU (Q00839)
P5L (p.Pro5Leu) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- TOPMed rs1680942008
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available