L38S (p.Leu38Ser) variant of SETBP1 (SET-binding protein)
L38S (p.Leu38Ser) in SETBP1 (SET-binding protein) 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 0.45 / 1. The record also includes structural context.
L38S (p.Leu38Ser) variant details
- p.Leu38Ser
- rs2069114561
- ClinGen CA402481460
- ClinVar RCV002829501
- TOPMed rs2069114561
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.17
- MetaLR 0.39
- MetaSVM 0.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available