P21S (p.Pro21Ser) variant of SETBP1 (SET-binding protein)
P21S (p.Pro21Ser) 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.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- gnomAD 18-44701407-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- MetaLR 0.09
- MetaSVM -0.99
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available