H49R (p.His49Arg) variant of SPI1 (Transcription factor PU.1)
H49R (p.His49Arg) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H49R (p.His49Arg) variant details
- p.His49Arg
- TOPMed rs1333138894
- gnomAD rs1333138894
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available