P51S (p.Pro51Ser) variant of HNRNPU (Q00839)
P51S (p.Pro51Ser) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of HNRNPU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- gnomAD rs943157985
- Uncertain significance
- HNRNPU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (HNRNPU-related disorder)
- UniProt: Uncertain significance
- Structural context available