Q83H (p.Gln83His) variant of SPI1 (Transcription factor PU.1)
Q83H (p.Gln83His) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q83H (p.Gln83His) variant details
- p.Gln83His
- TOPMed rs767461301
- gnomAD rs767461301
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.09
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available