P27H (p.Pro27His) variant of SETBP1 (SET-binding protein)
P27H (p.Pro27His) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD 18-44701426-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- MetaLR 0.24
- MetaSVM -0.75
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available