P44L (p.Pro44Leu) variant of SETBP1 (SET-binding protein)
P44L (p.Pro44Leu) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- gnomAD 18-44701477-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- MetaLR 0.15
- MetaSVM -0.91
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available