L20P (p.Leu20Pro) variant of SETBP1 (SET-binding protein)
L20P (p.Leu20Pro) 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 0.42 / 1. The record also includes structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2144195501
- ClinGen CA402481357
- ClinVar RCV002043028
- Ensembl rs2144195501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.23
- MetaLR 0.26
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available