S9T (p.Ser9Thr) variant of SETBP1 (SET-binding protein)
S9T (p.Ser9Thr) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- rs1343658768
- ClinGen CA402481287
- ClinVar RCV001986214
- TOPMed rs1343658768
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)