S118P (p.Ser118Pro) variant of HNRNPU (Q00839)
S118P (p.Ser118Pro) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S118P (p.Ser118Pro) variant details
- p.Ser118Pro
- 1000Genomes rs554568535
- ExAC rs554568535
- gnomAD rs554568535
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available