V6I (p.Val6Ile) variant of HNRNPU (Q00839)
V6I (p.Val6Ile) 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, experimental measurements, and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- ExAC rs770805349
- gnomAD rs770805349
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 14.50
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.342