H54R (p.His54Arg) variant of SPI1 (Transcription factor PU.1)
H54R (p.His54Arg) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- ExAC rs772645546
- gnomAD rs772645546
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -0.99
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available