P21Q (p.Pro21Gln) variant of SETBP1 (SET-binding protein)
P21Q (p.Pro21Gln) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- gnomAD 18-44701408-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.13
- MetaSVM -0.97
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available