P37A (p.Pro37Ala) variant of SETBP1 (SET-binding protein)
P37A (p.Pro37Ala) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- TOPMed rs985954731
- gnomAD rs985954731
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available