P21T (p.Pro21Thr) variant of SETBP1 (SET-binding protein)
P21T (p.Pro21Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD 18-44701407-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- MetaLR 0.11
- MetaSVM -1.00
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available