A47V (p.Ala47Val) variant of HNRNPU (Q00839)
A47V (p.Ala47Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD rs1339167570
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.08
- ESM-1b 0.34
- AlphaMissense 0.12
- CADD 24.60
- PolyPhen-2 0.68
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available