H54P (p.His54Pro) variant of SPI1 (Transcription factor PU.1)
H54P (p.His54Pro) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H54P (p.His54Pro) variant details
- p.His54Pro
- ExAC rs772645546
- gnomAD rs772645546
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available