N72T (p.Asn72Thr) variant of SETBP1 (SET-binding protein)
N72T (p.Asn72Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N72T (p.Asn72Thr) variant details
- p.Asn72Thr
- TOPMed rs1015494029
- gnomAD rs1015494029
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available