P28T (p.Pro28Thr) variant of SETBP1 (SET-binding protein)
P28T (p.Pro28Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- gnomAD 18-44701428-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- MetaLR 0.17
- MetaSVM -0.94
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available