P44R (p.Pro44Arg) variant of SETBP1 (SET-binding protein)
P44R (p.Pro44Arg) 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 0.37 / 1. The record also includes structural context.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- rs2144196383
- ClinGen CA402481497
- ClinVar RCV001907439
- Ensembl rs2144196383
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.16
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 0.43
- SIFT 0.01
- MutPred 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available