L42P (p.Leu42Pro) variant of HNRNPU (Q00839)
L42P (p.Leu42Pro) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- rs1553284037
- ClinGen CA345498046
- ClinVar RCV000658556
- Ensembl rs1553284037
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.631