P27L (p.Pro27Leu) variant of SETBP1 (SET-binding protein)
P27L (p.Pro27Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs757122232
- gnomAD rs757122232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available