S4W (p.Ser4Trp) variant of HNRNPU (Q00839)
S4W (p.Ser4Trp) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S4W (p.Ser4Trp) variant details
- p.Ser4Trp
- gnomAD rs1322316080
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 29.50
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available