D70Y (p.Asp70Tyr) variant of SETBP1 (SET-binding protein)
D70Y (p.Asp70Tyr) 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 0.47 / 1. The record also includes structural context.
D70Y (p.Asp70Tyr) variant details
- p.Asp70Tyr
- rs2069116787
- ClinGen CA402481658
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.89
- MetaLR 0.48
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available