H57R (p.His57Arg) variant of SPI1 (Transcription factor PU.1)
H57R (p.His57Arg) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- gnomAD rs1325457780
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.07
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available