D134V (p.Asp134Val) variant of HNRNPU (Q00839)
D134V (p.Asp134Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D134V (p.Asp134Val) variant details
- p.Asp134Val
- TOPMed rs1680927724
- gnomAD rs1680927724
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 23.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available