T6N (p.Thr6Asn) variant of SETBP1 (SET-binding protein)
T6N (p.Thr6Asn) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T6N (p.Thr6Asn) variant details
- p.Thr6Asn
- gnomAD 18-44701363-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available