F19V (p.Phe19Val) variant of SETBP1 (SET-binding protein)
F19V (p.Phe19Val) 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.
F19V (p.Phe19Val) variant details
- p.Phe19Val
- rs2144195481
- ClinGen CA402481348
- cosmic curated COSV10802
- ClinVar RCV001906207
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.27
- MetaLR 0.27
- MetaSVM -0.60
- PolyPhen-2 0.79
- SIFT 0.01
- MutPred 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available