Q92R (p.Gln92Arg) variant of SPI1 (Transcription factor PU.1)
Q92R (p.Gln92Arg) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q92R (p.Gln92Arg) variant details
- p.Gln92Arg
- Ensembl rs2095918195
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -0.98
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available