S128F (p.Ser128Phe) variant of HNRNPU (Q00839)
S128F (p.Ser128Phe) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S128F (p.Ser128Phe) variant details
- p.Ser128Phe
- rs758689637
- gnomAD 1-244848855-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available